ClinVar Miner

List of variants reported as uncertain significance for central nervous system malformation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1434
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_153240.5(NPHP3):c.*759G>A rs116338839 0.00632
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_001044385.3(TMEM237):c.*962A>C rs142403941 0.00484
NM_001044385.3(TMEM237):c.*969A>G rs137925244 0.00484
NM_138959.3(VANGL1):c.*5267G>A rs75064936 0.00465
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_138959.3(VANGL1):c.*3608C>T rs555833838 0.00381
NM_138959.3(VANGL1):c.*2336A>G rs148944333 0.00362
NM_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_138959.3(VANGL1):c.*3742A>T rs115376031 0.00360
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_018718.3(CEP41):c.*2116T>C rs190709953 0.00306
NM_018718.3(CEP41):c.*593G>A rs186685101 0.00290
NM_018718.3(CEP41):c.*4322G>A rs538898722 0.00283
NM_153240.5(NPHP3):c.*1188A>G rs7632096 0.00282
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_018082.6(POLR3B):c.*492A>T rs780838654 0.00223
NM_018718.3(CEP41):c.*1974A>G rs185337247 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_018082.6(POLR3B):c.*238T>C rs149535796 0.00214
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_138959.3(VANGL1):c.*1043A>G rs150705915 0.00210
NM_001173990.3(TMEM216):c.*107G>T rs535550368 0.00203
NM_015272.5(RPGRIP1L):c.*1385A>G rs150194508 0.00201
NM_018718.3(CEP41):c.*3274G>A rs112007936 0.00199
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
NM_138959.3(VANGL1):c.*2695C>A rs540290490 0.00195
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_001077446.4(TSEN34):c.*993C>T rs535031564 0.00192
NM_021926.4(ALX4):c.*2991G>A rs556132435 0.00186
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_025265.4(TSEN2):c.*419A>G rs139545175 0.00176
NM_016955.4(SEPSECS):c.*3870A>T rs187861688 0.00175
NM_018718.3(CEP41):c.*1056A>C rs574982700 0.00170
NM_138959.3(VANGL1):c.*922C>T rs142123586 0.00170
NM_000368.5(TSC1):c.*2904G>T rs559978998 0.00163
NM_001044385.3(TMEM237):c.*308T>G rs185380807 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_018718.3(CEP41):c.*5068G>A rs148856430 0.00163
NM_018718.3(CEP41):c.*740C>T rs553917711 0.00161
NM_207346.3(TSEN54):c.*282T>A rs191410134 0.00158
NM_001044385.3(TMEM237):c.*3855A>G rs187328136 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_001134831.2(AHI1):c.*1404A>G rs149288894 0.00148
NM_002449.5(MSX2):c.*366T>G rs193163747 0.00146
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225 0.00143
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001044385.3(TMEM237):c.*1382C>T rs187040024 0.00140
NM_001044385.3(TMEM237):c.*3728A>G rs555315551 0.00140
NM_138959.3(VANGL1):c.*758G>A rs546932643 0.00140
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_018718.3(CEP41):c.*2389G>A rs73152867 0.00138
NM_002449.5(MSX2):c.*1189G>A rs146501739 0.00137
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_138959.3(VANGL1):c.*5466G>A rs192325588 0.00135
NM_016042.4(EXOSC3):c.*555A>C rs188744146 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_001077446.4(TSEN34):c.*496T>A rs190495812 0.00130
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314 0.00128
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_018082.6(POLR3B):c.1873T>C (p.Leu625=) rs139376910 0.00122
NM_021926.4(ALX4):c.*3033G>A rs886048287 0.00121
NM_000368.5(TSC1):c.*3830C>T rs544931538 0.00120
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_021926.4(ALX4):c.*1463C>G rs771684261 0.00120
NM_153240.5(NPHP3):c.*1020T>C rs186828918 0.00120
NM_018718.3(CEP41):c.*4216C>T rs187549864 0.00117
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_001134831.2(AHI1):c.*1288T>C rs886061103 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_018082.6(POLR3B):c.*372A>G rs557970332 0.00106
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_153240.5(NPHP3):c.*852C>A rs192360684 0.00104
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_018718.3(CEP41):c.*1579T>C rs554826749 0.00101
NM_001378615.1(CC2D2A):c.-47G>A rs778112215 0.00100
NM_018082.6(POLR3B):c.-37G>T rs373418815 0.00099
NM_018718.3(CEP41):c.*4244C>G rs544508687 0.00096
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_018718.3(CEP41):c.*3541G>A rs376434190 0.00088
NM_025265.4(TSEN2):c.-353G>T rs1023680154 0.00086
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_138959.3(VANGL1):c.*2708G>A rs565246095 0.00084
NM_018718.3(CEP41):c.*680G>A rs146622910 0.00083
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) rs143196463 0.00083
NM_138959.3(VANGL1):c.*5808C>T rs184708484 0.00082
NM_018718.3(CEP41):c.*4908G>A rs552988501 0.00080
NM_207346.3(TSEN54):c.285+12G>A rs373044979 0.00080
NM_015272.5(RPGRIP1L):c.*1510G>A rs140374059 0.00079
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_001134831.2(AHI1):c.*1146T>A rs557989991 0.00076
NM_138959.3(VANGL1):c.*3671T>C rs757056873 0.00075
NM_016955.4(SEPSECS):c.*610G>A rs570766273 0.00073
NM_018082.6(POLR3B):c.*442G>A rs574873455 0.00073
NM_025265.4(TSEN2):c.1248+15G>C rs200663602 0.00073
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_000368.5(TSC1):c.*677G>C rs189890583 0.00069
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896 0.00068
NM_138959.3(VANGL1):c.*6794C>A rs562835629 0.00068
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_138959.3(VANGL1):c.1050T>C (p.His350=) rs147220426 0.00065
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_016464.5(TMEM138):c.*228C>G rs536120944 0.00063
NM_016955.4(SEPSECS):c.*2990G>C rs555513125 0.00063
NM_021926.4(ALX4):c.*3241C>G rs550434819 0.00063
NM_025265.4(TSEN2):c.990A>G (p.Lys330=) rs113260160 0.00063
NM_153240.5(NPHP3):c.*1176G>A rs183658380 0.00063
NM_153240.5(NPHP3):c.*926C>T rs570076170 0.00063
NM_001077446.4(TSEN34):c.*1046T>C rs553497009 0.00062
NM_000368.5(TSC1):c.*279T>G rs554637460 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_153240.5(NPHP3):c.*141T>C rs538987591 0.00061
NM_000368.5(TSC1):c.*1861G>A rs561511694 0.00060
NM_000368.5(TSC1):c.*3997G>A rs148982924 0.00060
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_153240.5(NPHP3):c.*519C>T rs3891704 0.00060
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_018718.3(CEP41):c.*1646G>A rs187513408 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_025265.4(TSEN2):c.522C>T (p.Asn174=) rs141580750 0.00059
NM_001378615.1(CC2D2A):c.*45G>C rs372449768 0.00057
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_178161.3(PTF1A):c.*117A>G rs886046911 0.00057
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_138959.3(VANGL1):c.*3407dup rs752251154 0.00056
NM_138959.3(VANGL1):c.*3409T>C rs140931431 0.00056
NM_000368.5(TSC1):c.*4680G>T rs747969932 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_021926.4(ALX4):c.*867C>T rs746147000 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_138959.3(VANGL1):c.*2099G>T rs886045129 0.00054
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274 0.00054
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_138959.3(VANGL1):c.-145G>T rs559438343 0.00052
NM_001044385.3(TMEM237):c.*1655G>A rs1020619947 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) rs202245444 0.00050
NM_153240.5(NPHP3):c.*437C>T rs539230132 0.00050
NM_002449.5(MSX2):c.*363A>G rs376258231 0.00049
NM_000368.5(TSC1):c.*3565C>T rs771494783 0.00048
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys) rs61734296 0.00048
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_018718.3(CEP41):c.*1981G>A rs538682192 0.00047
NM_021926.4(ALX4):c.*3577C>T rs569151215 0.00047
NM_138959.3(VANGL1):c.*2460C>T rs886045132 0.00047
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) rs142133435 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_153240.5(NPHP3):c.*1121A>G rs576904017 0.00046
NM_001044385.3(TMEM237):c.*2960C>A rs188637429 0.00045
NM_002449.5(MSX2):c.*1064A>G rs189444818 0.00045
NM_020320.5(RARS2):c.975-14C>T rs199941996 0.00045
NM_021926.4(ALX4):c.*3381C>T rs531931217 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_018718.3(CEP41):c.*3097T>C rs929238589 0.00042
NM_001044385.3(TMEM237):c.*2141C>T rs147652455 0.00041
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_018718.3(CEP41):c.*1385T>G rs781845516 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_001044385.3(TMEM237):c.*3517A>G rs563749617 0.00039
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_016042.4(EXOSC3):c.*954G>A rs530895640 0.00039
NM_000368.5(TSC1):c.*116A>G rs181486656 0.00038
NM_016042.4(EXOSC3):c.*795A>G rs558579097 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_018082.6(POLR3B):c.1702A>G (p.Ile568Val) rs35983209 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_138959.3(VANGL1):c.*3598A>G rs187286147 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_000368.5(TSC1):c.*3045A>G rs746365344 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_138959.3(VANGL1):c.*5862G>A rs868196412 0.00035
NM_000368.5(TSC1):c.*4447C>T rs112968492 0.00034
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro) rs200004897 0.00034
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_138959.3(VANGL1):c.*801A>C rs768206672 0.00034
NM_153240.5(NPHP3):c.2884-4C>G rs185913426 0.00034
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_016042.4(EXOSC3):c.-11T>C rs373191549 0.00033
NM_018718.3(CEP41):c.*4599A>G rs753024852 0.00033
NM_001044385.3(TMEM237):c.*1008A>G rs777244164 0.00032
NM_002449.5(MSX2):c.*1096A>G rs530984915 0.00032
NM_016464.5(TMEM138):c.-157C>G rs779029696 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_178161.3(PTF1A):c.462G>T (p.Arg154=) rs1056021170 0.00032
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp) rs569569636 0.00031
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_002449.5(MSX2):c.*183G>T rs771167296 0.00030
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_018718.3(CEP41):c.*805A>G rs145808545 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_000368.5(TSC1):c.*2854T>C rs899761882 0.00029
NM_001134831.2(AHI1):c.*793A>G rs191324834 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_178161.3(PTF1A):c.*306C>G rs769212869 0.00029
NM_178161.3(PTF1A):c.446C>T (p.Ala149Val) rs902236805 0.00029
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_016955.4(SEPSECS):c.*1591G>A rs751678209 0.00028
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_001044385.3(TMEM237):c.*987C>T rs568084746 0.00027
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_025265.4(TSEN2):c.*475C>T rs145812749 0.00027
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_002449.5(MSX2):c.*601C>T rs886060430 0.00026
NM_015272.5(RPGRIP1L):c.*851C>A rs138437010 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_018082.6(POLR3B):c.*584A>G rs886048903 0.00026
NM_018082.6(POLR3B):c.2334G>A (p.Thr778=) rs150800622 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_025265.4(TSEN2):c.309G>A (p.Arg103=) rs148549222 0.00026
NM_138959.3(VANGL1):c.-115G>C rs181583261 0.00026
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_018718.3(CEP41):c.*4973C>T rs760160179 0.00025
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_021926.4(ALX4):c.*2071C>T rs886048295 0.00025
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_018718.3(CEP41):c.*2226G>A rs115431091 0.00024
NM_025265.4(TSEN2):c.-201C>T rs776511215 0.00024
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_016042.4(EXOSC3):c.*847T>A rs566642894 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_016955.4(SEPSECS):c.*253A>G rs75428345 0.00022
NM_018718.3(CEP41):c.*1341A>C rs782742227 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met) rs140485834 0.00022
NM_001077446.4(TSEN34):c.*692A>G rs886054627 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_016464.5(TMEM138):c.-169C>T rs553390222 0.00021
NM_021926.3(ALX4):c.-81C>T rs886048305 0.00021
NM_021926.4(ALX4):c.*3382G>A rs748214374 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025265.4(TSEN2):c.*430G>A rs145164317 0.00020
NM_178161.3(PTF1A):c.*265A>G rs886046914 0.00020
NM_000368.5(TSC1):c.*1474G>A rs1013551475 0.00019
NM_000368.5(TSC1):c.*2094G>A rs534649062 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_002449.5(MSX2):c.*1233T>C rs989259719 0.00019
NM_016955.4(SEPSECS):c.*3234T>A rs551637494 0.00019
NM_018718.3(CEP41):c.*2781A>G rs782043938 0.00019
NM_018718.3(CEP41):c.*4391G>A rs782450438 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) rs368377822 0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn) rs140692271 0.00018
NM_138959.3(VANGL1):c.*25A>T rs577473121 0.00018
NM_138959.3(VANGL1):c.*5132G>T rs549041171 0.00018
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001077446.4(TSEN34):c.*948C>T rs886054629 0.00017
NM_002449.5(MSX2):c.*306G>T rs886060428 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_138959.3(VANGL1):c.765C>T (p.Val255=) rs368722418 0.00017
NM_000368.5(TSC1):c.*1251C>T rs773490178 0.00016
NM_001044385.3(TMEM237):c.*3123T>A rs866645983 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001134831.2(AHI1):c.-214C>T rs183265971 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_002449.5(MSX2):c.*647C>T rs751312423 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_018718.3(CEP41):c.*2786A>C rs782016580 0.00016
NM_018718.3(CEP41):c.*705G>A rs782543502 0.00016
NM_021926.4(ALX4):c.*2469T>C rs886048293 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_025265.4(TSEN2):c.*458C>T rs559783669 0.00016
NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys) rs140979604 0.00016
NM_138959.3(VANGL1):c.*2009C>T rs181543393 0.00016
NM_138959.3(VANGL1):c.*6681A>G rs968357183 0.00016
NM_138959.3(VANGL1):c.*6837A>G rs1056160668 0.00016
NM_000368.5(TSC1):c.*3034T>C rs764220703 0.00015
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_021926.4(ALX4):c.*1003C>A rs776365654 0.00015
NM_138959.3(VANGL1):c.*4272T>G rs777221691 0.00015
NM_001009894.3(RLIG1):c.*594T>C rs376016171 0.00014
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_003384.2(VRK1):c.-81C>T rs886050948 0.00014
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_016955.4(SEPSECS):c.*1122C>T rs770577255 0.00014
NM_018082.6(POLR3B):c.1956-8C>T rs770497469 0.00014
NM_018718.3(CEP41):c.*1328T>A rs782132652 0.00014
NM_018718.3(CEP41):c.*4714T>C rs782085608 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=) rs371073764 0.00014
NM_138959.3(VANGL1):c.*4347C>T rs138485279 0.00014
NM_138959.3(VANGL1):c.*5351G>A rs762453158 0.00014
NM_138959.3(VANGL1):c.231G>A (p.Thr77=) rs186509771 0.00014
NM_138959.3(VANGL1):c.868T>C (p.Tyr290His) rs145309218 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_002449.5(MSX2):c.*144C>T rs530005338 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys) rs181911810 0.00013
NM_001044385.3(TMEM237):c.*1151C>T rs188943302 0.00012
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_016955.4(SEPSECS):c.*1614T>C rs151120379 0.00012
NM_016955.4(SEPSECS):c.*328A>T rs796305783 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_138959.3(VANGL1):c.*1545A>G rs117337677 0.00012
NM_138959.3(VANGL1):c.*6128T>C rs181588954 0.00012
NM_138959.3(VANGL1):c.*6474T>G rs886045152 0.00012
NM_153240.5(NPHP3):c.*46A>G rs530016526 0.00012
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val) rs140097468 0.00012
NM_000368.5(TSC1):c.*1452A>C rs969974293 0.00011
NM_000368.5(TSC1):c.*499C>T rs530003850 0.00011
NM_000368.5(TSC1):c.*60T>G rs577329896 0.00011
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_002449.5(MSX2):c.*1312A>G rs886060434 0.00011
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_016042.4(EXOSC3):c.*402C>T rs567641975 0.00011
NM_016464.5(TMEM138):c.-23G>A rs192056545 0.00011
NM_016464.5(TMEM138):c.-55G>A rs555405590 0.00011
NM_016464.5(TMEM138):c.-71G>A rs199532763 0.00011
NM_016955.4(SEPSECS):c.1027-7G>A rs374407543 0.00011
NM_016955.4(SEPSECS):c.389-8A>C rs368514215 0.00011
NM_018718.3(CEP41):c.*1773A>G rs782011799 0.00011
NM_018718.3(CEP41):c.*859G>A rs781930185 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153 0.00011
NM_021926.4(ALX4):c.*3134G>A rs766967309 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_138959.3(VANGL1):c.*3049G>C rs1040113254 0.00011
NM_138959.3(VANGL1):c.*4846G>C rs868558700 0.00011
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_000368.5(TSC1):c.*4248C>T rs886063567 0.00010
NM_001044385.3(TMEM237):c.*1148A>G rs558665286 0.00010
NM_001044385.3(TMEM237):c.*1762G>A rs886055441 0.00010
NM_001044385.3(TMEM237):c.*2465A>G rs527921749 0.00010
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236 0.00010
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_016042.4(EXOSC3):c.*63T>G rs753180747 0.00010
NM_016464.5(TMEM138):c.*92G>C rs372997712 0.00010
NM_018082.6(POLR3B):c.615-3T>C rs368511518 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_020320.5(RARS2):c.1306-8C>T rs375589432 0.00010
NM_021926.4(ALX4):c.*1408G>T rs886048300 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025265.4(TSEN2):c.-355C>T rs886057905 0.00010
NM_178161.3(PTF1A):c.*283T>C rs957501007 0.00010
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_001044385.3(TMEM237):c.*492T>C rs530304720 0.00009
NM_001044385.3(TMEM237):c.-61G>A rs571550977 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_016955.4(SEPSECS):c.*1637G>A rs781169592 0.00009
NM_016955.4(SEPSECS):c.*1727G>A rs886059345 0.00009
NM_016955.4(SEPSECS):c.*2179T>C rs886059344 0.00009
NM_018082.6(POLR3B):c.3390G>C (p.Lys1130Asn) rs201527706 0.00009
NM_018718.3(CEP41):c.*1644A>G rs533265295 0.00009
NM_018718.3(CEP41):c.*2111A>G rs180725211 0.00009
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025265.4(TSEN2):c.748G>A (p.Asp250Asn) rs757172883 0.00009
NM_138959.3(VANGL1):c.*3290A>G rs1378359750 0.00009
NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu) rs78535164 0.00009
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_016042.4(EXOSC3):c.*611A>G rs939514834 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_016955.4(SEPSECS):c.*1648G>A rs117876262 0.00008
NM_018082.6(POLR3B):c.*60A>G rs560425343 0.00008
NM_018718.3(CEP41):c.*3965A>G rs781992723 0.00008
NM_025265.4(TSEN2):c.*56A>T rs749423706 0.00008
NM_025265.4(TSEN2):c.635A>C (p.Glu212Ala) rs201734805 0.00008
NM_138959.3(VANGL1):c.*932dup rs886045124 0.00008
NM_138959.3(VANGL1):c.612C>T (p.Tyr204=) rs577862345 0.00008
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile) rs1162744670 0.00008
NM_207346.3(TSEN54):c.1452C>T (p.Asp484=) rs767631739 0.00008
NM_000368.5(TSC1):c.*4492T>C rs889436708 0.00007
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001173990.3(TMEM216):c.*525T>G rs982189283 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_018082.6(POLR3B):c.2179T>C (p.Leu727=) rs375960295 0.00007
NM_018718.3(CEP41):c.*1284A>G rs376297063 0.00007
NM_021926.4(ALX4):c.*229G>A rs920950667 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr) rs1443229654 0.00007
NM_000368.5(TSC1):c.*2724C>T rs749535135 0.00006
NM_000368.5(TSC1):c.*4254G>A rs139801034 0.00006
NM_000368.5(TSC1):c.*806T>C rs191614777 0.00006
NM_001044385.3(TMEM237):c.*1560C>T rs983166297 0.00006
NM_001044385.3(TMEM237):c.*3992A>G rs768173661 0.00006
NM_001077446.4(TSEN34):c.*458C>T rs905318412 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001134831.2(AHI1):c.10+13T>C rs973391845 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187 0.00006
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001173990.3(TMEM216):c.*372C>T rs565159932 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_002449.5(MSX2):c.*106C>T rs747163618 0.00006
NM_002449.5(MSX2):c.*465C>T rs554165494 0.00006
NM_002449.5(MSX2):c.*526T>C rs532200136 0.00006
NM_002449.5(MSX2):c.*863A>G rs886060431 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_003384.3(VRK1):c.*107A>G rs375987917 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_015272.5(RPGRIP1L):c.*1276G>A rs375800554 0.00006
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090 0.00006
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087 0.00006
NM_016464.5(TMEM138):c.*354C>G rs889868449 0.00006
NM_016464.5(TMEM138):c.*547C>T rs781358495 0.00006
NM_016464.5(TMEM138):c.-164T>C rs886048407 0.00006
NM_016955.4(SEPSECS):c.*2645A>G rs143152362 0.00006
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) rs202043298 0.00006
NM_018082.6(POLR3B):c.*587G>C rs576237770 0.00006
NM_018082.6(POLR3B):c.106-3T>C rs368216350 0.00006
NM_018082.6(POLR3B):c.2933G>A (p.Arg978His) rs117293015 0.00006
NM_018718.3(CEP41):c.*1411G>T rs886061996 0.00006
NM_018718.3(CEP41):c.*409A>C rs782042681 0.00006
NM_018718.3(CEP41):c.*776G>A rs374833862 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) rs200632524 0.00006
NM_021926.4(ALX4):c.*2431C>T rs886048294 0.00006
NM_021926.4(ALX4):c.*2478T>C rs187228888 0.00006
NM_021926.4(ALX4):c.1185C>G (p.Ala395=) rs751941183 0.00006
NM_021926.4(ALX4):c.1206G>A (p.Glu402=) rs375068808 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025265.4(TSEN2):c.*211C>T rs886057911 0.00006
NM_025265.4(TSEN2):c.1104A>G (p.Leu368=) rs761076607 0.00006
NM_138959.3(VANGL1):c.*2107A>G rs886045130 0.00006
NM_138959.3(VANGL1):c.*3844A>G rs528983735 0.00006
NM_138959.3(VANGL1):c.*4800C>A rs1027382711 0.00006
NM_138959.3(VANGL1):c.1299C>T (p.Asn433=) rs145137292 0.00006
NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) rs761123443 0.00006
NM_138959.3(VANGL1):c.812+9C>T rs370321176 0.00006
NM_153240.5(NPHP3):c.*784C>T rs376015619 0.00006
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813 0.00006
NM_000368.5(TSC1):c.*824C>T rs886063613 0.00005
NM_001044385.3(TMEM237):c.*3385C>T rs374762322 0.00005
NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro) rs778510316 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_002449.5(MSX2):c.*46G>T rs375964205 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_018082.6(POLR3B):c.3147A>G (p.Glu1049=) rs772975950 0.00005
NM_018082.6(POLR3B):c.3273-7G>A rs373580359 0.00005
NM_018718.3(CEP41):c.*1352G>A rs1380245671 0.00005
NM_018718.3(CEP41):c.*1538A>C rs777673385 0.00005
NM_018718.3(CEP41):c.*3193C>T rs886061989 0.00005
NM_018718.3(CEP41):c.*4769C>T rs965337048 0.00005
NM_018718.3(CEP41):c.*614A>G rs781791465 0.00005
NM_018718.3(CEP41):c.*682A>G rs782649697 0.00005
NM_018718.3(CEP41):c.*881G>A rs782801860 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_207346.3(TSEN54):c.1030C>T (p.Arg344Cys) rs759944703 0.00005
NM_207346.3(TSEN54):c.1430+5G>A rs367823640 0.00005
NM_000368.5(TSC1):c.*1972A>C rs917117694 0.00004
NM_000368.5(TSC1):c.*2638C>T rs373845353 0.00004
NM_000368.5(TSC1):c.*4515G>A rs886063565 0.00004
NM_000368.5(TSC1):c.*4538A>G rs1036825417 0.00004
NM_001044385.3(TMEM237):c.*1108A>G rs758086204 0.00004
NM_001044385.3(TMEM237):c.*2964T>A rs955949981 0.00004
NM_001044385.3(TMEM237):c.*74T>C rs190276722 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 0.00004
NM_002449.5(MSX2):c.*102C>T rs886060426 0.00004
NM_003384.3(VRK1):c.-11C>T rs1055946372 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_016955.4(SEPSECS):c.*1574T>C rs886059349 0.00004
NM_016955.4(SEPSECS):c.*1620C>T rs886059348 0.00004
NM_018082.6(POLR3B):c.3018C>T (p.Pro1006=) rs373346251 0.00004
NM_018082.6(POLR3B):c.3098+8A>G rs753390602 0.00004
NM_018718.3(CEP41):c.*3451G>A rs144534675 0.00004
NM_018718.3(CEP41):c.*4385C>T rs556578226 0.00004
NM_018718.3(CEP41):c.*747G>A rs782582354 0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_021926.4(ALX4):c.*1076C>T rs1031249586 0.00004
NM_021926.4(ALX4):c.*1599C>T rs561685019 0.00004
NM_021926.4(ALX4):c.*18G>A rs749052167 0.00004
NM_021926.4(ALX4):c.*3112C>T rs886048286 0.00004
NM_021926.4(ALX4):c.*3259G>A rs1054318916 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025265.4(TSEN2):c.-222G>A rs533687592 0.00004
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter) rs201467485 0.00004
NM_025265.4(TSEN2):c.768G>A (p.Glu256=) rs200009549 0.00004
NM_138959.3(VANGL1):c.*1456T>C rs886045126 0.00004
NM_138959.3(VANGL1):c.*1638A>G rs756347879 0.00004
NM_138959.3(VANGL1):c.*1748C>T rs143344734 0.00004
NM_138959.3(VANGL1):c.51G>A (p.Ser17=) rs575493003 0.00004
NM_138959.3(VANGL1):c.681G>A (p.Val227=) rs201698322 0.00004
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 0.00004
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) rs771832737 0.00004
NM_207346.3(TSEN54):c.1430+4C>T rs202109896 0.00004
NM_000368.5(TSC1):c.*1000A>G rs886063610 0.00003
NM_000368.5(TSC1):c.*1680G>A rs532372427 0.00003
NM_000368.5(TSC1):c.*2949A>T rs886063588 0.00003
NM_000368.5(TSC1):c.*4845G>T rs886063562 0.00003
NM_001044385.3(TMEM237):c.*3697G>A rs761856568 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001077446.4(TSEN34):c.*358T>C rs762136353 0.00003
NM_001077446.4(TSEN34):c.675A>G (p.Arg225=) rs375366303 0.00003
NM_001134831.2(AHI1):c.*1684T>C rs75518881 0.00003
NM_001134831.2(AHI1):c.*387T>G rs886061107 0.00003
NM_001134831.2(AHI1):c.*588A>G rs555215397 0.00003
NM_001134831.2(AHI1):c.-347C>T rs1456963108 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001173990.3(TMEM216):c.*93T>C rs746881860 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00003
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) rs776218196 0.00003
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_016464.5(TMEM138):c.*264C>G rs886048409 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) rs773969315 0.00003
NM_018082.6(POLR3B):c.2905G>A (p.Val969Met) rs200477676 0.00003
NM_018082.6(POLR3B):c.3087C>T (p.Ala1029=) rs886048901 0.00003
NM_018718.3(CEP41):c.*2669A>G rs905679390 0.00003
NM_018718.3(CEP41):c.*2849A>G rs1288708394 0.00003
NM_018718.3(CEP41):c.*3040G>A rs566129615 0.00003
NM_018718.3(CEP41):c.*3044A>G rs886061991 0.00003
NM_018718.3(CEP41):c.*333C>T rs886062000 0.00003
NM_018718.3(CEP41):c.*4007C>T rs782719854 0.00003
NM_018718.3(CEP41):c.*578T>C rs782132140 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_021926.4(ALX4):c.*1466G>A rs552492615 0.00003
NM_021926.4(ALX4):c.*1710T>C rs886048297 0.00003
NM_021926.4(ALX4):c.*79G>A rs886048304 0.00003
NM_021926.4(ALX4):c.291G>A (p.Pro97=) rs767580968 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_025265.4(TSEN2):c.1249-12A>G rs370637450 0.00003
NM_138959.3(VANGL1):c.*5036G>A rs1432374941 0.00003
NM_138959.3(VANGL1):c.*5993C>G rs886045150 0.00003
NM_138959.3(VANGL1):c.*6360C>T rs886045151 0.00003
NM_138959.3(VANGL1):c.*6640G>A rs746958675 0.00003
NM_138959.3(VANGL1):c.1023C>T (p.Asn341=) rs543050989 0.00003
NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys) rs778860160 0.00003
NM_153240.5(NPHP3):c.*1213T>C rs886057994 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521 0.00003
NM_207346.3(TSEN54):c.*167T>C rs886053401 0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln) rs886043563 0.00003
NM_000368.5(TSC1):c.*2515T>C rs886878529 0.00002
NM_000368.5(TSC1):c.*2637C>G rs538802838 0.00002
NM_000368.5(TSC1):c.*2647C>T rs886063595 0.00002
NM_000368.5(TSC1):c.*3272A>G rs866920023 0.00002
NM_000368.5(TSC1):c.*448G>A rs886063617 0.00002
NM_000368.5(TSC1):c.*4522C>T rs918338551 0.00002
NM_000368.5(TSC1):c.*941A>G rs189368676 0.00002
NM_000368.5(TSC1):c.-214C>T rs886063628 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_001077446.4(TSEN34):c.*999A>G rs1437168457 0.00002
NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys) rs758855323 0.00002
NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln) rs200274242 0.00002
NM_001077446.4(TSEN34):c.591C>G (p.Ala197=) rs781446570 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001134831.2(AHI1):c.*1426A>T rs886061101 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln) rs372888581 0.00002
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_002449.5(MSX2):c.*126T>C rs1242791605 0.00002
NM_015272.5(RPGRIP1L):c.*1206C>T rs1437795784 0.00002
NM_015272.5(RPGRIP1L):c.*822A>G rs554221378 0.00002
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_016042.4(EXOSC3):c.*194G>C rs886063933 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016464.5(TMEM138):c.*548G>A rs1565080891 0.00002
NM_016955.4(SEPSECS):c.*112T>C rs886059353 0.00002
NM_016955.4(SEPSECS):c.*1659C>A rs1356086552 0.00002
NM_016955.4(SEPSECS):c.*2250A>G rs886059343 0.00002
NM_016955.4(SEPSECS):c.*327G>A rs1179436290 0.00002
NM_016955.4(SEPSECS):c.389-10T>C rs777854893 0.00002
NM_018082.6(POLR3B):c.2731G>A (p.Val911Ile) rs770365711 0.00002
NM_018082.6(POLR3B):c.846+14T>C rs774557688 0.00002
NM_018718.3(CEP41):c.*2605C>T rs886061992 0.00002
NM_018718.3(CEP41):c.*277A>G rs886062001 0.00002
NM_018718.3(CEP41):c.*4417G>A rs886061988 0.00002
NM_018718.3(CEP41):c.*4464T>C rs886061987 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_021926.4(ALX4):c.*1157C>A rs886048302 0.00002
NM_021926.4(ALX4):c.*2030G>A rs886048296 0.00002
NM_021926.4(ALX4):c.*3755_*3760del rs886048284 0.00002
NM_021926.4(ALX4):c.*3825G>C rs538499078 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025265.4(TSEN2):c.-160C>G rs372043523 0.00002
NM_025265.4(TSEN2):c.-224G>C rs1175377888 0.00002
NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile) rs1178412243 0.00002
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser) rs202056552 0.00002
NM_025265.4(TSEN2):c.961-14G>A rs748777382 0.00002
NM_138959.3(VANGL1):c.*2329C>T rs188964296 0.00002
NM_138959.3(VANGL1):c.*4463A>G rs886045142 0.00002
NM_138959.3(VANGL1):c.1529A>G (p.Lys510Arg) rs375459125 0.00002
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430 0.00002
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843 0.00002
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936 0.00002
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu) rs886046909 0.00002
NM_178161.3(PTF1A):c.654C>A (p.Leu218=) rs886046910 0.00002
NM_207346.3(TSEN54):c.1205G>T (p.Gly402Val) rs1383991855 0.00002
NM_207346.3(TSEN54):c.1385G>A (p.Arg462Gln) rs778218563 0.00002
NM_207346.3(TSEN54):c.867G>A (p.Thr289=) rs751120868 0.00002
NM_000368.4(TSC1):c.-227G>A rs886063629 0.00001
NM_000368.5(TSC1):c.*1215G>A rs1013608610 0.00001
NM_000368.5(TSC1):c.*1349G>A rs1195760994 0.00001
NM_000368.5(TSC1):c.*1519del rs886063607 0.00001
NM_000368.5(TSC1):c.*1970G>A rs886063603 0.00001
NM_000368.5(TSC1):c.*2104A>G rs1019153783 0.00001
NM_000368.5(TSC1):c.*2446A>G rs558966777 0.00001
NM_000368.5(TSC1):c.*249G>A rs1296777494 0.00001
NM_000368.5(TSC1):c.*250G>C rs1309725348 0.00001
NM_000368.5(TSC1):c.*2576T>C rs886063599 0.00001
NM_000368.5(TSC1):c.*2829A>G rs886063591 0.00001
NM_000368.5(TSC1):c.*2890A>G rs946784136 0.00001
NM_000368.5(TSC1):c.*333C>A rs886063618 0.00001
NM_000368.5(TSC1):c.*3484A>G rs1335423130 0.00001
NM_000368.5(TSC1):c.*3959T>C rs1445439695 0.00001
NM_000368.5(TSC1):c.*4128G>A rs886063572 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_001009894.3(RLIG1):c.*611A>G rs2033206514 0.00001
NM_001044385.3(TMEM237):c.*1330C>T rs1016616892 0.00001
NM_001044385.3(TMEM237):c.*1378A>G rs886055443 0.00001
NM_001044385.3(TMEM237):c.*1561G>A rs563393191 0.00001
NM_001044385.3(TMEM237):c.*1603T>G rs886055442 0.00001
NM_001044385.3(TMEM237):c.*1835C>T rs1414626161 0.00001
NM_001044385.3(TMEM237):c.*1965G>A rs947203821 0.00001
NM_001044385.3(TMEM237):c.*2044T>C rs886055440 0.00001
NM_001044385.3(TMEM237):c.*2495C>G rs1459433205 0.00001
NM_001044385.3(TMEM237):c.*3997A>G rs1387630894 0.00001
NM_001044385.3(TMEM237):c.*3C>A rs749132259 0.00001
NM_001044385.3(TMEM237):c.-59G>A rs886055449 0.00001
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=) rs747915597 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val) rs773512396 0.00001
NM_001077446.4(TSEN34):c.*758T>G rs989200379 0.00001
NM_001077446.4(TSEN34):c.*836C>T rs1476835074 0.00001
NM_001077446.4(TSEN34):c.*94C>T rs886054626 0.00001
NM_001077446.4(TSEN34):c.153G>A (p.Leu51=) rs1276930053 0.00001
NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro) rs767815202 0.00001
NM_001077446.4(TSEN34):c.765C>T (p.His255=) rs148706818 0.00001
NM_001077446.4(TSEN34):c.786C>T (p.Cys262=) rs749845322 0.00001
NM_001080522.2(CC2D2A):c.*144A>C rs920755267 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001134831.2(AHI1):c.*1327C>T rs371457794 0.00001
NM_001134831.2(AHI1):c.*1646T>C rs886061100 0.00001
NM_001134831.2(AHI1):c.*68C>T rs886061108 0.00001
NM_001134831.2(AHI1):c.*80C>T rs536580823 0.00001
NM_001134831.2(AHI1):c.-54G>T rs1162660693 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496 0.00001
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser) rs1380121460 0.00001
NM_001134831.2(AHI1):c.2765-9T>C rs374852342 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093 0.00001
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=) rs756637497 0.00001
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716 0.00001
NM_001173990.2(TMEM216):c.-242C>T rs756981776 0.00001
NM_001173990.3(TMEM216):c.*377T>C rs1260385076 0.00001
NM_001378615.1(CC2D2A):c.*94T>C rs1296848672 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 0.00001
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142 0.00001
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu) rs759126033 0.00001
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His) rs886059139 0.00001
NM_001378615.1(CC2D2A):c.2487-6T>C rs767335431 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181 0.00001
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val) rs763775613 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001378615.1(CC2D2A):c.4675-12T>G rs769761582 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu) rs201986486 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NM_002449.5(MSX2):c.*644C>T rs970685736 0.00001
NM_002449.5(MSX2):c.635C>G (p.Ala212Gly) rs775062909 0.00001
NM_003384.3(VRK1):c.*281G>A rs1889257279 0.00001
NM_003384.3(VRK1):c.*302T>C rs1294884447 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_015272.5(RPGRIP1L):c.*107G>A rs770837632 0.00001
NM_015272.5(RPGRIP1L):c.*1597G>A rs1963334195 0.00001
NM_015272.5(RPGRIP1L):c.*1869A>G rs1224541215 0.00001
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818 0.00001
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840 0.00001
NM_015272.5(RPGRIP1L):c.*53G>A rs1963400312 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_016042.4(EXOSC3):c.*312T>G rs1044154281 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016464.5(TMEM138):c.-17G>A rs757369483 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016955.4(SEPSECS):c.*1008T>C rs375166577 0.00001
NM_016955.4(SEPSECS):c.*2921A>G rs1407421050 0.00001
NM_016955.4(SEPSECS):c.*354C>T rs572862359 0.00001
NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile) rs753701192 0.00001
NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=) rs921485863 0.00001
NM_018082.5(POLR3B):c.*653C>T rs1252707400 0.00001
NM_018082.6(POLR3B):c.*205G>C rs2038746494 0.00001
NM_018082.6(POLR3B):c.*98C>T rs532224514 0.00001
NM_018082.6(POLR3B):c.1038A>G (p.Gln346=) rs886048898 0.00001
NM_018082.6(POLR3B):c.1263+1G>A rs1565893138 0.00001
NM_018082.6(POLR3B):c.1602A>G (p.Pro534=) rs200983703 0.00001
NM_018082.6(POLR3B):c.2843C>T (p.Ala948Val) rs779604405 0.00001
NM_018082.6(POLR3B):c.3105C>T (p.Pro1035=) rs778281040 0.00001
NM_018082.6(POLR3B):c.423T>C (p.Arg141=) rs886048896 0.00001
NM_018082.6(POLR3B):c.733G>A (p.Val245Ile) rs751975109 0.00001
NM_018082.6(POLR3B):c.780C>T (p.His260=) rs937446537 0.00001
NM_018082.6(POLR3B):c.966+14C>T rs779555589 0.00001
NM_018082.6(POLR3B):c.967-9G>A rs754613008 0.00001
NM_018718.3(CEP41):c.*1205G>T rs1554415397 0.00001
NM_018718.3(CEP41):c.*1766T>C rs1211217706 0.00001
NM_018718.3(CEP41):c.*2159C>T rs886061995 0.00001
NM_018718.3(CEP41):c.*2709G>A rs1342689782 0.00001
NM_018718.3(CEP41):c.*4505G>T rs1554413676 0.00001
NM_018718.3(CEP41):c.*4994T>C rs527933839 0.00001
NM_018718.3(CEP41):c.*55G>A rs782471506 0.00001
NM_018718.3(CEP41):c.*832A>C rs1554415585 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_020320.5(RARS2):c.1367G>A (p.Arg456His) rs144447777 0.00001
NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) rs371367255 0.00001
NM_020320.5(RARS2):c.783A>G (p.Val261=) rs770878816 0.00001
NM_020320.5(RARS2):c.879-13T>C rs765999304 0.00001
NM_021926.4(ALX4):c.*1025C>T rs142207322 0.00001
NM_021926.4(ALX4):c.*1135C>T rs886048303 0.00001
NM_021926.4(ALX4):c.*1356T>C rs886048301 0.00001
NM_021926.4(ALX4):c.*1627T>G rs1271697400 0.00001
NM_021926.4(ALX4):c.*2208C>A rs1350470913 0.00001
NM_021926.4(ALX4):c.*2668T>C rs886048291 0.00001
NM_021926.4(ALX4):c.*2883C>A rs886048289 0.00001
NM_021926.4(ALX4):c.*296C>T rs867734583 0.00001
NM_021926.4(ALX4):c.*3016G>A rs886048288 0.00001
NM_021926.4(ALX4):c.*3220G>A rs1956182984 0.00001
NM_021926.4(ALX4):c.*3949C>G rs1956178633 0.00001
NM_021926.4(ALX4):c.*4094T>C rs1030516530 0.00001
NM_021926.4(ALX4):c.1163G>A (p.Arg388His) rs756876780 0.00001
NM_021926.4(ALX4):c.275C>G (p.Pro92Arg) rs1036676266 0.00001
NM_021926.4(ALX4):c.561G>T (p.Val187=) rs774556630 0.00001
NM_021926.4(ALX4):c.620C>T (p.Ser207Leu) rs104894197 0.00001
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025265.4(TSEN2):c.*95T>C rs528422124 0.00001
NM_025265.4(TSEN2):c.-105A>G rs770631241 0.00001
NM_025265.4(TSEN2):c.-13C>T rs780952847 0.00001
NM_025265.4(TSEN2):c.-18+10G>A rs886057908 0.00001
NM_025265.4(TSEN2):c.105A>G (p.Lys35=) rs777378178 0.00001
NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys) rs138662263 0.00001
NM_025265.4(TSEN2):c.1233C>T (p.Ser411=) rs747491166 0.00001
NM_025265.4(TSEN2):c.657T>C (p.His219=) rs754200115 0.00001
NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe) rs760813133 0.00001
NM_138959.3(VANGL1):c.*1970C>A rs746455152 0.00001
NM_138959.3(VANGL1):c.*3123A>G rs143712039 0.00001
NM_138959.3(VANGL1):c.*3150T>C rs148126079 0.00001
NM_138959.3(VANGL1):c.*3289A>G rs886045136 0.00001
NM_138959.3(VANGL1):c.*340C>G rs886045121 0.00001
NM_138959.3(VANGL1):c.*3559G>A rs544552151 0.00001
NM_138959.3(VANGL1):c.*3708C>T rs1368816704 0.00001
NM_138959.3(VANGL1):c.*4254A>G rs961390698 0.00001
NM_138959.3(VANGL1):c.*5066C>G rs751663783 0.00001
NM_138959.3(VANGL1):c.*929G>A rs886045123 0.00001
NM_138959.3(VANGL1):c.114C>T (p.Asp38=) rs201840785 0.00001
NM_138959.3(VANGL1):c.1210G>T (p.Ala404Ser) rs775571796 0.00001
NM_138959.3(VANGL1):c.1491T>G (p.Ile497Met) rs200739468 0.00001
NM_138959.3(VANGL1):c.312G>C (p.Gly104=) rs146723580 0.00001
NM_138959.3(VANGL1):c.572T>C (p.Val191Ala) rs781010619 0.00001
NM_138959.3(VANGL1):c.619C>T (p.Arg207Cys) rs771534557 0.00001
NM_138959.3(VANGL1):c.759G>C (p.Gln253His) rs555914402 0.00001
NM_138959.3(VANGL1):c.914A>T (p.His305Leu) rs886045119 0.00001
NM_153240.5(NPHP3):c.*1098C>T rs886057995 0.00001
NM_153240.5(NPHP3):c.*139T>G rs886058001 0.00001
NM_153240.5(NPHP3):c.*351A>T rs992880401 0.00001
NM_153240.5(NPHP3):c.*692C>T rs886057997 0.00001
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) rs1939564898 0.00001
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675 0.00001
NM_153240.5(NPHP3):c.2571-12C>G rs886058003 0.00001
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.3697-7T>A rs777908405 0.00001
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273 0.00001
NM_207346.3(TSEN54):c.1067A>G (p.His356Arg) rs1221250692 0.00001
NM_207346.3(TSEN54):c.1070C>T (p.Ala357Val) rs760089379 0.00001
NM_207346.3(TSEN54):c.1486G>A (p.Gly496Arg) rs886053400 0.00001
NM_207346.3(TSEN54):c.367T>A (p.Cys123Ser) rs1484028244 0.00001
NM_207346.3(TSEN54):c.369+5G>A rs756343304 0.00001
NM_207346.3(TSEN54):c.745A>C (p.Ser249Arg) rs761784110 0.00001
NM_207346.3(TSEN54):c.821G>A (p.Gly274Glu) rs1460815000 0.00001
NM_000368.5(TSC1):c.*1036C>G rs1844969383
NM_000368.5(TSC1):c.*1050T>C rs530042727
NM_000368.5(TSC1):c.*106A>G rs886063620
NM_000368.5(TSC1):c.*1089G>A rs886063609
NM_000368.5(TSC1):c.*1239C>T rs1350222885
NM_000368.5(TSC1):c.*1355C>A rs749683153
NM_000368.5(TSC1):c.*1519C>T rs886063608
NM_000368.5(TSC1):c.*1541dup rs748099884
NM_000368.5(TSC1):c.*1612C>A rs886063605
NM_000368.5(TSC1):c.*1839G>A rs1170523556
NM_000368.5(TSC1):c.*1969T>C rs886063604
NM_000368.5(TSC1):c.*2022G>T rs568052856
NM_000368.5(TSC1):c.*2213C>A rs539030496
NM_000368.5(TSC1):c.*2364T>A rs886063602
NM_000368.5(TSC1):c.*2439C>A rs886063601
NM_000368.5(TSC1):c.*2475C>A rs886063600
NM_000368.5(TSC1):c.*2558A>C rs115516164
NM_000368.5(TSC1):c.*2615C>A rs886063598
NM_000368.5(TSC1):c.*2632A>G rs886063597
NM_000368.5(TSC1):c.*2644G>T rs886063596
NM_000368.5(TSC1):c.*2658G>T rs886063594
NM_000368.5(TSC1):c.*2679T>C rs886063593
NM_000368.5(TSC1):c.*2691A>T rs886063592
NM_000368.5(TSC1):c.*2893dup rs143549363
NM_000368.5(TSC1):c.*2897A>G rs886063589
NM_000368.5(TSC1):c.*289T>A rs115091888
NM_000368.5(TSC1):c.*2924T>C rs1844864883
NM_000368.5(TSC1):c.*298A>G rs886063619
NM_000368.5(TSC1):c.*3047C>A rs886063587
NM_000368.5(TSC1):c.*3063A>T rs886063586
NM_000368.5(TSC1):c.*3092T>C rs1844856793
NM_000368.5(TSC1):c.*3170G>A rs367605870
NM_000368.5(TSC1):c.*3238T>C rs886063585
NM_000368.5(TSC1):c.*3239G>T rs886063584
NM_000368.5(TSC1):c.*3240G>T rs886063583
NM_000368.5(TSC1):c.*3248_*3250del rs886063582
NM_000368.5(TSC1):c.*3284C>A rs886063581
NM_000368.5(TSC1):c.*3285G>T rs886063580
NM_000368.5(TSC1):c.*3330G>T rs553475307
NM_000368.5(TSC1):c.*350G>A rs1845006725
NM_000368.5(TSC1):c.*3531G>T rs886063579
NM_000368.5(TSC1):c.*3543C>A rs886063578
NM_000368.5(TSC1):c.*3648C>T rs113313202
NM_000368.5(TSC1):c.*3658G>A rs886063577
NM_000368.5(TSC1):c.*3685G>A rs1844826893
NM_000368.5(TSC1):c.*3737C>A rs886063576
NM_000368.5(TSC1):c.*3836G>A rs572231078
NM_000368.5(TSC1):c.*3924G>T rs886063575
NM_000368.5(TSC1):c.*3987A>G rs886063574
NM_000368.5(TSC1):c.*4072G>A rs886063573
NM_000368.5(TSC1):c.*4105C>T rs1588276922
NM_000368.5(TSC1):c.*4119T>C rs1844802090
NM_000368.5(TSC1):c.*4159G>T rs886063571
NM_000368.5(TSC1):c.*4167C>A rs886063570
NM_000368.5(TSC1):c.*4193A>C rs886063569
NM_000368.5(TSC1):c.*4233G>T rs886063568
NM_000368.5(TSC1):c.*4248C>A rs886063567
NM_000368.5(TSC1):c.*4356C>T rs886063566
NM_000368.5(TSC1):c.*4622G>A rs886063564
NM_000368.5(TSC1):c.*4631dup rs60000611
NM_000368.5(TSC1):c.*4826A>C rs886063563
NM_000368.5(TSC1):c.*548C>A rs886063616
NM_000368.5(TSC1):c.*583C>A rs886063615
NM_000368.5(TSC1):c.*817G>T rs886063614
NM_000368.5(TSC1):c.*859G>T rs886063612
NM_000368.5(TSC1):c.*920C>A rs886063611
NM_000368.5(TSC1):c.*936T>C rs1170508811
NM_000368.5(TSC1):c.-166A>G rs886063626
NM_000368.5(TSC1):c.-174A>T rs886063627
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000368.5(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu) rs397514846
NM_000368.5(TSC1):c.1997+6G>A rs553762962
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.261A>G (p.Leu87=) rs1407780510
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.5(TSC1):c.2626-3del rs886063622
NM_000368.5(TSC1):c.2626-4_2626-3dup rs1554813638
NM_000368.5(TSC1):c.2946A>G (p.Lys982=) rs1845117521
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1436G>T rs528180812
NM_001044385.3(TMEM237):c.*1606T>C rs1000633418
NM_001044385.3(TMEM237):c.*1879G>A rs1301264448
NM_001044385.3(TMEM237):c.*1890G>A rs191383267
NM_001044385.3(TMEM237):c.*2307A>G rs1957712077
NM_001044385.3(TMEM237):c.*2448C>A rs1234909902
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C rs1957709069
NM_001044385.3(TMEM237):c.*2652A>G rs1957708713
NM_001044385.3(TMEM237):c.*2670C>T rs1559581980
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T rs1957734276
NM_001044385.3(TMEM237):c.*3350A>T rs561312621
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*62A>G rs1957736360
NM_001044385.3(TMEM237):c.*663G>C rs940503609
NM_001044385.3(TMEM237):c.*781G>A rs1957729006
NM_001044385.3(TMEM237):c.*895C>G rs1957727656
NM_001044385.3(TMEM237):c.*940A>C rs1957727275
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe) rs1687306098
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=) rs1957812548
NM_001077446.4(TSEN34):c.*1078del rs886054630
NM_001077446.4(TSEN34):c.*199A>T rs527437622
NM_001077446.4(TSEN34):c.*276G>C rs1281858067
NM_001077446.4(TSEN34):c.*384G>C rs1052800195
NM_001077446.4(TSEN34):c.*842T>G rs569859820
NM_001077446.4(TSEN34):c.*849AT[3] rs746578183
NM_001077446.4(TSEN34):c.*863G>A rs920714892
NM_001077446.4(TSEN34):c.183C>A (p.Ala61=) rs886054624
NM_001077446.4(TSEN34):c.289C>T (p.Gln97Ter) rs1568849876
NM_001077446.4(TSEN34):c.294C>T (p.Ser98=) rs770587931
NM_001077446.4(TSEN34):c.687G>A (p.Glu229=) rs886054625
NM_001077446.4(TSEN34):c.73C>T (p.Arg25Cys) rs1307925755
NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys) rs770199288
NM_001077446.4(TSEN34):c.96G>T (p.Thr32=) rs931778585
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1568A>T rs969919726
NM_001134831.2(AHI1):c.*216G>A rs1781565852
NM_001134831.2(AHI1):c.*246T>C rs1781561968
NM_001134831.2(AHI1):c.*484G>A rs1045439496
NM_001134831.2(AHI1):c.*981C>T rs376956056
NM_001134831.2(AHI1):c.-332C>G rs944668049
NM_001134831.2(AHI1):c.-53A>G rs1461027288
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1912+15T>G rs1786478454
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=) rs1785751637
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys) rs958113326
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=) rs1583193331
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys) rs755780260
NM_001134831.2(AHI1):c.3109+14T>A rs1778988078
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg) rs750115460
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001173990.2(TMEM216):c.-128A>C rs886048411
NM_001173990.2(TMEM216):c.-285A>G rs139151563
NM_001173990.3(TMEM216):c.*190A>G rs1858851501
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*393C>T rs1858858010
NM_001173990.3(TMEM216):c.*548T>A rs1858863107
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001363.5(DKC1):c.691G>A (p.Val231Met)
NM_001378615.1(CC2D2A):c.-178T>C rs886059135
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001378615.1(CC2D2A):c.2486+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val) rs376403848
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001378615.1(CC2D2A):c.3398+13T>C rs886059183
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=) rs1721486758
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_002449.5(MSX2):c.*1161C>T rs1760913049
NM_002449.5(MSX2):c.*289A>G rs886060427
NM_002449.5(MSX2):c.*512G>T rs1760894878
NM_002449.5(MSX2):c.*516A>G rs1760894980
NM_002449.5(MSX2):c.*530A>G rs886060429
NM_002449.5(MSX2):c.*601C>G rs886060430
NM_002449.5(MSX2):c.*946T>G rs886060432
NM_002449.5(MSX2):c.-50C>T rs371076863
NM_002449.5(MSX2):c.122A>T (p.Lys41Met) rs1760740243
NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) rs772051040
NM_003384.3(VRK1):c.*104A>G rs1889251007
NM_003384.3(VRK1):c.*171C>A rs1889253340
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*338A>G rs1889259011
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.261C>T (p.Tyr87=) rs748309797
NM_003384.3(VRK1):c.374+11G>A rs937625087
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*125G>T rs868861934
NM_015272.5(RPGRIP1L):c.*133T>A rs1963396187
NM_015272.5(RPGRIP1L):c.*159T>G rs1963395143
NM_015272.5(RPGRIP1L):c.*1645A>T rs144554139
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*846A>T rs1963365021
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.-16A>G rs909461672
NM_015272.5(RPGRIP1L):c.-8G>T rs1020579838
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=) rs1967363312
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584
NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)
NM_016042.4(EXOSC3):c.*242A>C rs1828556271
NM_016042.4(EXOSC3):c.*354C>A rs530037792
NM_016042.4(EXOSC3):c.*354C>G rs530037792
NM_016042.4(EXOSC3):c.*419A>G rs1828546518
NM_016042.4(EXOSC3):c.*582A>C rs886063932
NM_016042.4(EXOSC3):c.*812T>G rs886063931
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr) rs758230758
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu) rs140199968
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser) rs1349854928
NM_016955.3(SEPSECS):c.-143_-139TTTTG[4] rs779134137
NM_016955.3(SEPSECS):c.-147_-146dup rs536637971
NM_016955.3(SEPSECS):c.-160C>T rs111926440
NM_016955.4(SEPSECS):c.*1031G>A rs559066856
NM_016955.4(SEPSECS):c.*1622T>C rs886059347
NM_016955.4(SEPSECS):c.*1635G>A rs886059346
NM_016955.4(SEPSECS):c.*2300A>G rs184832870
NM_016955.4(SEPSECS):c.*2480T>G rs966419399
NM_016955.4(SEPSECS):c.*254_*257del rs577008196
NM_016955.4(SEPSECS):c.*2618C>A rs1728115319
NM_016955.4(SEPSECS):c.*2708G>A rs886059342
NM_016955.4(SEPSECS):c.*271G>A rs544559197
NM_016955.4(SEPSECS):c.*2871T>C rs1728102688
NM_016955.4(SEPSECS):c.*2916A>G rs1728100643
NM_016955.4(SEPSECS):c.*3082A>G rs886059341
NM_016955.4(SEPSECS):c.*3134C>A rs886059340
NM_016955.4(SEPSECS):c.*3402AAT[1] rs886059339
NM_016955.4(SEPSECS):c.*352A>G rs1728221965
NM_016955.4(SEPSECS):c.*420G>C rs886059352
NM_016955.4(SEPSECS):c.*470T>G rs886059351
NM_016955.4(SEPSECS):c.*612G>T rs886059350
NM_016955.4(SEPSECS):c.1120+8C>A rs1728415390
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) rs527970470
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) rs751823145
NM_016955.4(SEPSECS):c.269+9_269+12del rs748765764
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_018082.6(POLR3B):c.-39G>T rs140312606
NM_018082.6(POLR3B):c.2301G>T (p.Gly767=) rs2037875469
NM_018082.6(POLR3B):c.2449C>T (p.Pro817Ser) rs886048899
NM_018082.6(POLR3B):c.2461G>A (p.Val821Ile) rs1218609049
NM_018082.6(POLR3B):c.2669G>T (p.Arg890Leu) rs750694928
NM_018082.6(POLR3B):c.2670T>A (p.Arg890=) rs886048900
NM_018082.6(POLR3B):c.2823G>A (p.Gly941=) rs757733299
NM_018082.6(POLR3B):c.2929G>C (p.Val977Leu) rs199545845
NM_018082.6(POLR3B):c.3334C>G (p.Leu1112Val) rs886048902
NM_018082.6(POLR3B):c.685A>T (p.Thr229Ser) rs886048897
NM_018082.6(POLR3B):c.771A>T (p.Thr257=) rs201822852
NM_018718.3(CEP41):c.*1191G>A rs781848072
NM_018718.3(CEP41):c.*1768G>T rs552499760
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C rs574519929
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2725C>T rs1796651983
NM_018718.3(CEP41):c.*287C>T rs1796743356
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3708A>T rs576298616
NM_018718.3(CEP41):c.*4343C>G rs1554413758
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4539C>T rs1796601439
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_020320.5(RARS2):c.1036-9C>T rs886061822
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu) rs760844669
NM_020320.5(RARS2):c.1511+3A>G rs886061821
NM_020320.5(RARS2):c.818G>C (p.Arg273Pro) rs139721632
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) rs139721632
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_021926.4(ALX4):c.*1122G>A rs1056695823
NM_021926.4(ALX4):c.*1346del rs544187857
NM_021926.4(ALX4):c.*1444G>C rs886048299
NM_021926.4(ALX4):c.*1470C>T rs886048298
NM_021926.4(ALX4):c.*1590G>A rs562110335
NM_021926.4(ALX4):c.*2181A>G rs1590683863
NM_021926.4(ALX4):c.*2463T>C rs192114163
NM_021926.4(ALX4):c.*2489C>T rs886048292
NM_021926.4(ALX4):c.*2835A>T rs886048290
NM_021926.4(ALX4):c.*2939C>A rs1035301125
NM_021926.4(ALX4):c.*3033G>C rs886048287
NM_021926.4(ALX4):c.*3405G>T rs7115841
NM_021926.4(ALX4):c.*3506T>A rs886048285
NM_021926.4(ALX4):c.*3553T>C rs1294809456
NM_021926.4(ALX4):c.*3626T>G rs1956180135
NM_021926.4(ALX4):c.*3988T>A rs886048283
NM_021926.4(ALX4):c.*562C>G rs1035739473
NM_021926.4(ALX4):c.*573C>T rs554752826
NM_021926.4(ALX4):c.*855C>A rs573850141
NM_021926.4(ALX4):c.*856G>A rs951437284
NM_021926.4(ALX4):c.*859C>A rs758619819
NM_021926.4(ALX4):c.*962C>T rs552527026
NM_021926.4(ALX4):c.280C>T (p.Pro94Ser) rs760627532
NM_021926.4(ALX4):c.347C>G (p.Pro116Arg) rs772691401
NM_021926.4(ALX4):c.348G>T (p.Pro116=) rs769501075
NM_021926.4(ALX4):c.569C>T (p.Pro190Leu) rs143620051
NM_021926.4(ALX4):c.787C>T (p.Gln263Ter) rs1564998718
NM_024075.4(TSEN34):c.-175C>A rs886054622
NM_024075.5(TSEN34):c.-41G>A rs886054623
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025265.4(TSEN2):c.*106A>G rs1276816567
NM_025265.4(TSEN2):c.*198A>G rs551722010
NM_025265.4(TSEN2):c.*19C>T rs1274814643
NM_025265.4(TSEN2):c.*448C>G rs886057912
NM_025265.4(TSEN2):c.-130T>C rs886057907
NM_025265.4(TSEN2):c.-219C>G rs886057906
NM_025265.4(TSEN2):c.-293A>G rs1486288895
NM_025265.4(TSEN2):c.-382A>C rs886057904
NM_025265.4(TSEN2):c.-91A>C rs866706372
NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu) rs370820344
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_025265.4(TSEN2):c.604A>T (p.Thr202Ser) rs886057909
NM_025265.4(TSEN2):c.680C>T (p.Ala227Val) rs886057910
NM_025265.4(TSEN2):c.704A>G (p.His235Arg) rs769122669
NM_138959.3(VANGL1):c.*1042C>A rs886045125
NM_138959.3(VANGL1):c.*1402C>G rs1653892014
NM_138959.3(VANGL1):c.*1483C>T rs886045127
NM_138959.3(VANGL1):c.*1492G>A rs752428680
NM_138959.3(VANGL1):c.*1492G>T rs752428680
NM_138959.3(VANGL1):c.*1516A>C rs886045128
NM_138959.3(VANGL1):c.*1749G>A rs3811010
NM_138959.3(VANGL1):c.*2116A>T rs886045131
NM_138959.3(VANGL1):c.*229T>A rs1460622785
NM_138959.3(VANGL1):c.*234A>G rs1653840369
NM_138959.3(VANGL1):c.*2504A>G rs1653939278
NM_138959.3(VANGL1):c.*2541G>A rs886045133
NM_138959.3(VANGL1):c.*2542C>T rs886045134
NM_138959.3(VANGL1):c.*2592T>C rs1653943896
NM_138959.3(VANGL1):c.*2917G>A rs900018260
NM_138959.3(VANGL1):c.*2961T>G rs1653955779
NM_138959.3(VANGL1):c.*2992G>A rs886045135
NM_138959.3(VANGL1):c.*301G>C rs193075321
NM_138959.3(VANGL1):c.*3267C>T rs1457146079
NM_138959.3(VANGL1):c.*3273A>G rs551091101
NM_138959.3(VANGL1):c.*3666G>A rs886045138
NM_138959.3(VANGL1):c.*3720T>C rs886045139
NM_138959.3(VANGL1):c.*4041T>C rs755509900
NM_138959.3(VANGL1):c.*4209A>G rs1028169993
NM_138959.3(VANGL1):c.*4676C>G rs886045143
NM_138959.3(VANGL1):c.*4731C>T rs144489409
NM_138959.3(VANGL1):c.*483A>G rs886045122
NM_138959.3(VANGL1):c.*4840T>C rs886045144
NM_138959.3(VANGL1):c.*5022T>G rs886045145
NM_138959.3(VANGL1):c.*5267G>T rs75064936
NM_138959.3(VANGL1):c.*5413A>C rs886045146
NM_138959.3(VANGL1):c.*5441TC[3] rs886045147
NM_138959.3(VANGL1):c.*5639_*5640del rs886045148
NM_138959.3(VANGL1):c.*5929G>A rs886045149
NM_138959.3(VANGL1):c.*6084C>G rs536289395
NM_138959.3(VANGL1):c.*634T>C rs546423374
NM_138959.3(VANGL1):c.*6602C>T rs886045153
NM_138959.3(VANGL1):c.*6687A>G rs1654092548
NM_138959.3(VANGL1):c.*89TTC[2] rs746915495
NM_138959.3(VANGL1):c.-171C>A rs886045117
NM_138959.3(VANGL1):c.-247CGG[6] rs886045116
NM_138959.3(VANGL1):c.-24C>T rs886045118
NM_138959.3(VANGL1):c.1201A>C (p.Met401Leu) rs1198149468
NM_138959.3(VANGL1):c.316G>A (p.Asp106Asn) rs867892644
NM_138959.3(VANGL1):c.453G>A (p.Gly151=) rs759094384
NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro) rs561312836
NM_138959.3(VANGL1):c.867C>A (p.Ile289=) rs868487713
NM_153240.5(NPHP3):c.*1078T>G rs886057996
NM_153240.5(NPHP3):c.*1094A>G rs1939005375
NM_153240.5(NPHP3):c.*1184A>T rs1939002888
NM_153240.5(NPHP3):c.*178T>G rs1939035707
NM_153240.5(NPHP3):c.*626C>G rs1156702698
NM_153240.5(NPHP3):c.1118+11A>C rs751629184
NM_153240.5(NPHP3):c.1524+11G>T rs1939687605
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) rs373627362
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser) rs139730838
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) rs141144099
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_178161.3(PTF1A):c.*272G>A rs1840935977
NM_178161.3(PTF1A):c.*316T>C rs1840936579
NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser) rs1192341489
NM_178161.3(PTF1A):c.201C>T (p.Cys67=) rs539214102
NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu) rs1840910398
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val) rs146089816
NM_207346.3(TSEN54):c.*224G>T rs2053484029
NM_207346.3(TSEN54):c.1043T>A (p.Leu348His) rs886053397
NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys) rs398124621
NM_207346.3(TSEN54):c.1163G>C (p.Arg388Pro) rs796181199
NM_207346.3(TSEN54):c.1209G>C (p.Gln403His) rs886053398
NM_207346.3(TSEN54):c.1252+6C>G rs977124000
NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu) rs767683456
NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser) rs886053394
NM_207346.3(TSEN54):c.1418T>A (p.Met473Lys) rs2053460545
NM_207346.3(TSEN54):c.1530C>A (p.Ile510=) rs754461779
NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln) rs1377971286
NM_207346.3(TSEN54):c.285+9C>G rs200318170
NM_207346.3(TSEN54):c.286-8C>T rs886053395
NM_207346.3(TSEN54):c.521+9C>G rs753458014
NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg) rs376310114
NM_207346.3(TSEN54):c.663G>A (p.Leu221=) rs886053396
NM_207346.3(TSEN54):c.894C>G (p.Phe298Leu) rs564262300

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