ClinVar Miner

List of variants reported as benign for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 825
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_014846.4(WASHC5):c.2770+18_2770+19insG rs11370883 0.99994
NM_004958.4(MTOR):c.6034-30A>G rs1770344 0.99413
NM_021926.4(ALX4):c.621A>G (p.Ser207=) rs10769028 0.99242
NM_021926.4(ALX4):c.*2110A>G rs7105993 0.99108
NM_001759.4(CCND2):c.-49T>C rs3217786 0.97216
NM_001128159.3(VPS53):c.1117-26T>C rs4968055 0.96284
NM_021926.4(ALX4):c.467-45T>C rs11037929 0.95917
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) rs2241088 0.93443
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5913+28T>G rs4809029 0.90682
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_000435.3(NOTCH3):c.5815+36G>A rs2074618 0.90515
NM_000435.3(NOTCH3):c.5363-21G>A rs10416777 0.90510
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619 0.90508
NM_021926.4(ALX4):c.*3107A>G rs4755239 0.90297
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_000435.3(NOTCH3):c.5913+55A>G rs757472 0.86388
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85598
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_005559.4(LAMA1):c.5380-13G>A rs617573 0.82747
NM_005559.4(LAMA1):c.5496+20A>G rs616722 0.82650
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_021926.4(ALX4):c.*547A>G rs4755796 0.81277
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_001077446.4(TSEN34):c.795= (p.Pro265=) rs7595 0.80164
NM_001077446.4(TSEN34):c.*497= rs36621 0.80151
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_021926.4(ALX4):c.778-117T>C rs10742699 0.79676
NM_002449.5(MSX2):c.*1176G>C rs2890849 0.79238
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_000435.3(NOTCH3):c.2792+21G>A rs11669982 0.76928
NM_002449.5(MSX2):c.*1125A>G rs14459 0.76842
NM_002449.5(MSX2):c.*510A>G rs2381939 0.76399
NM_002449.5(MSX2):c.*1146T>C rs2890848 0.75720
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_000368.5(TSC1):c.*1275T>G rs2809244 0.74384
NM_001368809.2(AMPD2):c.860+19A>G rs524998 0.73896
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_033026.6(PCLO):c.2441G>C (p.Ser814Thr) rs2877 0.70660
NM_001368809.2(AMPD2):c.1272T>C (p.His424=) rs863978 0.70414
NM_021926.4(ALX4):c.*2682C>T rs897005 0.69471
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_000368.5(TSC1):c.*3679G>A rs1050700 0.68068
NM_005559.4(LAMA1):c.6004A>G (p.Lys2002Glu) rs607230 0.68054
NM_138959.3(VANGL1):c.*505A>G rs6700610 0.67885
NM_021926.4(ALX4):c.*517C>T rs4755797 0.67187
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_000435.3(NOTCH3):c.3461-32C>T rs56061231 0.63976
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63819
NM_033026.6(PCLO):c.1893+47C>A rs6951239 0.63627
NM_004958.4(MTOR):c.2997C>T (p.Asn999=) rs1064261 0.63488
NM_001128159.3(VPS53):c.2328+15A>G rs2034088 0.63097
NM_006416.5(SLC35A1):c.*302A>G rs1051131 0.61356
NM_020320.5(RARS2):c.1512-43T>C rs9450723 0.61345
NM_006416.5(SLC35A1):c.*648T>G rs1051148 0.61316
NM_020320.5(RARS2):c.452-21A>G rs4707374 0.61261
NM_005559.4(LAMA1):c.2763T>C (p.Cys921=) rs539713 0.61217
NM_016111.4(TELO2):c.682+115C>T rs2235630 0.61186
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_000435.3(NOTCH3):c.4892-22G>T rs2074620 0.59905
NM_004958.4(MTOR):c.1437T>C (p.Asp479=) rs1135172 0.59749
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_002449.5(MSX2):c.380-164G>A rs4867776 0.58905
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_020335.3(VANGL2):c.1137A>G (p.Lys379=) rs12086448 0.58424
NM_021926.4(ALX4):c.778-140G>C rs10769024 0.57195
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_000435.3(NOTCH3):c.3837+21T>A rs11670823 0.56639
NM_025265.4(TSEN2):c.-209G>T rs709161 0.56522
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_004958.4(MTOR):c.4731G>A (p.Ala1577=) rs1057079 0.55171
NM_000368.5(TSC1):c.*1322C>T rs2809243 0.54889
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_001128159.3(VPS53):c.1557-30T>C rs741677 0.51785
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg) rs2235624 0.51194
NM_001199198.3(TBC1D23):c.876+27G>T rs3772698 0.50657
NM_014008.5(CCDC22):c.1540-18T>C rs2294021 0.50585
NM_025265.4(TSEN2):c.*292G>T rs299643 0.50169
NM_025233.7(COASY):c.164C>A (p.Ser55Tyr) rs615942 0.49854
NM_025233.7(COASY):c.972A>G (p.Thr324=) rs598126 0.49440
NM_005559.4(LAMA1):c.3378T>C (p.Gly1126=) rs9946794 0.48883
NM_005559.4(LAMA1):c.2493T>C (p.Cys831=) rs684634 0.48817
NM_005559.4(LAMA1):c.5391G>A (p.Leu1797=) rs617206 0.48492
NM_005559.4(LAMA1):c.5496+19C>T rs523711 0.48483
NM_001128159.3(VPS53):c.1218+817A>G rs11247553 0.48461
NM_005559.4(LAMA1):c.2109C>T (p.Ala703=) rs621993 0.46872
NM_005559.4(LAMA1):c.2051+14A>T rs674733 0.46819
NM_033026.6(PCLO):c.14415+10T>C rs2715150 0.44882
NM_001128159.3(VPS53):c.-90C>T rs2474694 0.44823
NM_000368.5(TSC1):c.*1488C>T rs739442 0.43524
NM_021926.4(ALX4):c.104G>C (p.Arg35Thr) rs3824915 0.42227
NM_016111.4(TELO2):c.2226+38A>G rs11248882 0.42009
NM_138959.3(VANGL1):c.*4478C>T rs17034226 0.41876
NM_138959.3(VANGL1):c.*2351T>G rs12121158 0.41872
NM_018027.5(FRMD4A):c.207-16T>C rs3740121 0.41756
NM_138959.3(VANGL1):c.*5751A>G rs10801933 0.41406
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg) rs2248128 0.41062
NM_001128159.3(VPS53):c.1867-81C>T rs7219151 0.40515
NM_138959.3(VANGL1):c.*5368G>A rs10494179 0.39762
NM_138959.3(VANGL1):c.*5995A>T rs4595366 0.39755
NM_138959.3(VANGL1):c.*5841A>T rs4548441 0.39752
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_005559.4(LAMA1):c.3573C>T (p.Thr1191=) rs619106 0.39038
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_001128159.3(VPS53):c.218+102C>G rs2543781 0.38294
NM_016955.4(SEPSECS):c.*807A>G rs13109061 0.38145
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_033026.6(PCLO):c.1501T>C (p.Ser501Pro) rs6972461 0.37994
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_016111.4(TELO2):c.2415T>C (p.Ala805=) rs3180228 0.37206
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_001497.4(B4GALT1):c.648+102C>T rs913214 0.35792
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_003384.3(VRK1):c.217-244T>C rs12586511 0.34167
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=) rs2075443 0.33961
NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala) rs2522833 0.33644
NM_021926.4(ALX4):c.304C>T (p.Pro102Ser) rs12421995 0.32933
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_020320.5(RARS2):c.451+140G>A rs34513746 0.32228
NM_001759.4(CCND2):c.570C>G (p.Thr190=) rs3217805 0.31575
NM_138959.3(VANGL1):c.*3496T>A rs4839472 0.31126
NM_001135146.2(SLC39A8):c.552+48C>T rs1462947 0.30373
NM_001128159.3(VPS53):c.1117-91C>G rs7225041 0.30116
NM_021926.4(ALX4):c.1074C>T (p.His358=) rs3802805 0.29957
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_005559.4(LAMA1):c.6227T>C (p.Ile2076Thr) rs671871 0.29406
NM_004958.4(MTOR):c.5553C>T (p.Ser1851=) rs2275527 0.29172
NM_004958.4(MTOR):c.6909G>A (p.Leu2303=) rs11121691 0.28827
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_015631.6(TCTN3):c.1204-43T>C rs17461546 0.27142
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_000368.5(TSC1):c.*1372T>G rs58612431 0.26140
NM_021926.4(ALX4):c.*2479T>C rs897004 0.26076
NM_005559.4(LAMA1):c.3126+7A>G rs603258 0.25992
NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=) rs2016639 0.25393
NM_138959.3(VANGL1):c.*416G>A rs3811011 0.25321
NM_138959.3(VANGL1):c.*1277C>T rs3204955 0.25318
NM_138959.3(VANGL1):c.*3023G>T rs10923204 0.24904
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_018082.6(POLR3B):c.*347A>G rs2288266 0.24463
NM_020320.5(RARS2):c.111-21C>T rs9450740 0.24263
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
NM_021926.4(ALX4):c.*2832A>C rs1840254 0.24185
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_021926.4(ALX4):c.*3166C>T rs7116335 0.23498
NM_021926.4(ALX4):c.*228C>T rs4755798 0.23484
NM_138959.3(VANGL1):c.*6199A>T rs3811007 0.22923
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_016111.4(TELO2):c.2227-39C>T rs3736721 0.22446
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala) rs12961939 0.21927
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_015631.6(TCTN3):c.1453-28A>G rs12784530 0.21461
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr) rs566655 0.20323
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_001128159.3(VPS53):c.219-11T>C rs4968100 0.19527
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_207346.3(TSEN54):c.285+3G>A rs8074291 0.19227
NM_207346.3(TSEN54):c.333C>G (p.Arg111=) rs6501818 0.19222
NM_033026.6(PCLO):c.860A>G (p.Asp287Gly) rs61741659 0.18909
NM_015631.6(TCTN3):c.500-11A>T rs11188434 0.18618
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_014846.4(WASHC5):c.979-20C>T rs12546285 0.18463
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_138959.3(VANGL1):c.*83T>A rs3811013 0.17099
NM_001128159.3(VPS53):c.81C>T (p.Ile27=) rs11558129 0.16882
NM_138959.3(VANGL1):c.*6212C>T rs3811006 0.16816
NM_138959.3(VANGL1):c.*4504C>T rs17034228 0.16812
NM_138959.3(VANGL1):c.*5266C>T rs17034230 0.16811
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_005559.4(LAMA1):c.4026T>G (p.Val1342=) rs73938538 0.15758
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) rs3761936 0.15394
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_001128159.3(VPS53):c.1867-71T>C rs12951098 0.15268
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_000368.5(TSC1):c.*1934A>G rs10491534 0.14325
NM_005559.4(LAMA1):c.5288C>T (p.Ala1763Val) rs12607841 0.13777
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_014846.4(WASHC5):c.187-3C>T rs16900368 0.13363
NM_014846.4(WASHC5):c.417+11A>G rs2384917 0.13320
NM_001082486.2(ACD):c.1298+20C>A rs67114979 0.13128
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr) rs4839469 0.12684
NM_005559.4(LAMA1):c.6345+7T>C rs10164200 0.12418
NM_001082486.2(ACD):c.413+3A>G rs8058187 0.12302
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_000368.5(TSC1):c.*4437G>A rs11553763 0.11942
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_014846.4(WASHC5):c.1764+12A>G rs3765213 0.11313
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_138959.3(VANGL1):c.-224C>A rs191609592 0.10807
NM_138959.3(VANGL1):c.*6721A>G rs17034249 0.10611
NM_138959.3(VANGL1):c.*2581G>A rs3811008 0.10587
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_021926.4(ALX4):c.729G>A (p.Ala243=) rs11037928 0.10227
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_021926.4(ALX4):c.879C>T (p.Leu293=) rs12419361 0.09492
NM_001368809.2(AMPD2):c.91+180C>G rs186745159 0.09427
NM_001368809.2(AMPD2):c.-263+18T>C rs28362580 0.09386
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_021926.4(ALX4):c.*1896A>G rs55959427 0.08833
NM_178161.3(PTF1A):c.*15G>A rs10828415 0.08608
NM_003384.3(VRK1):c.1159+43C>G rs45457797 0.08564
NM_021926.4(ALX4):c.*1699G>T rs7942612 0.08488
NM_021926.4(ALX4):c.778-11G>A rs75147697 0.08417
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_001128159.3(VPS53):c.1117-3C>T rs56807006 0.08020
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566 0.07763
NM_020320.5(RARS2):c.111-19T>G rs6900057 0.07559
NM_021926.4(ALX4):c.*973G>A rs117526668 0.07512
NM_025265.4(TSEN2):c.377G>A (p.Arg126His) rs33955793 0.07115
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_025265.4(TSEN2):c.162G>A (p.Ala54=) rs78685815 0.06643
NM_020320.5(RARS2):c.974+90T>C rs2273131 0.06641
NM_020320.5(RARS2):c.975-43G>A rs3757371 0.06627
NM_020320.5(RARS2):c.1305+18C>T rs3734908 0.06626
NM_005027.4(PIK3R2):c.700= (p.Ser234=) rs2241088 0.06557
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_138959.3(VANGL1):c.*3417C>T rs76160883 0.06248
NM_138959.3(VANGL1):c.*2489C>T rs41299571 0.06245
NM_138959.3(VANGL1):c.*6321T>G rs77318780 0.06169
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627 0.05898
NM_001497.4(B4GALT1):c.597C>T (p.His199=) rs1065765 0.05834
NM_138959.3(VANGL1):c.*300C>T rs41310108 0.05806
NM_138959.3(VANGL1):c.*217C>T rs41299565 0.05793
NM_138959.3(VANGL1):c.*694C>A rs41312690 0.05722
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala) rs17038460 0.04732
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_016955.4(SEPSECS):c.1211+7A>G rs17408685 0.04557
NM_005027.4(PIK3R2):c.937= (p.Ser313=) rs1011320 0.04360
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_020320.5(RARS2):c.1237+38G>A rs13203056 0.04243
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_000368.5(TSC1):c.*2651G>T rs55660990 0.04112
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03942
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03689
NM_000368.5(TSC1):c.*913C>T rs117425923 0.03547
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920 0.03535
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_002449.5(MSX2):c.*658C>T rs10044147 0.03436
NM_014846.4(WASHC5):c.186+17G>A rs59134934 0.03280
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_002449.5(MSX2):c.-17C>G rs4647952 0.03140
NM_020320.5(RARS2):c.703G>A (p.Val235Met) rs35862137 0.03019
NC_000016.10:g.67660703A>G rs72547496 0.03001
NM_001077446.4(TSEN34):c.*928A>G rs144441443 0.02975
NM_001077446.4(TSEN34):c.*1128G>T rs79447697 0.02881
NM_014846.4(WASHC5):c.1408+7A>G rs16900312 0.02845
NM_014846.4(WASHC5):c.1151-8G>A rs16900335 0.02839
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323 0.02837
NM_138959.3(VANGL1):c.*2043C>T rs74117021 0.02749
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_002449.5(MSX2):c.*416A>C rs10038500 0.02725
NM_000368.5(TSC1):c.*1487C>T rs79277527 0.02671
NM_002449.5(MSX2):c.*349T>C rs114567531 0.02667
NM_000368.5(TSC1):c.*682C>T rs75252898 0.02584
NM_000368.5(TSC1):c.*2558A>G rs115516164 0.02571
NM_000368.5(TSC1):c.*376C>T rs114064768 0.02541
NM_021926.4(ALX4):c.*1447G>A rs11037920 0.02530
NM_021926.4(ALX4):c.594C>A (p.Leu198=) rs61737295 0.02470
NM_021926.4(ALX4):c.*2226G>A rs78607024 0.02447
NM_001368809.2(AMPD2):c.1984-19C>T rs75276578 0.02404
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_000368.5(TSC1):c.*107T>C rs116917669 0.02353
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_001077446.4(TSEN34):c.*29G>A rs2289145 0.02347
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=) rs11879943 0.02345
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_025265.4(TSEN2):c.639T>C (p.Asp213=) rs3796329 0.02309
NM_025265.4(TSEN2):c.327G>A (p.Glu109=) rs77899976 0.02296
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_018082.6(POLR3B):c.-95C>T rs17219334 0.02211
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_000368.4(TSC1):c.*4898G>A rs79220715 0.01804
NM_016955.4(SEPSECS):c.*2966A>G rs115116065 0.01758
NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala) rs34059106 0.01695
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_000368.5(TSC1):c.*1468C>T rs72759433 0.01681
NM_025265.4(TSEN2):c.963G>A (p.Glu321=) rs17036879 0.01671
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_021926.4(ALX4):c.*972C>T rs151214135 0.01593
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) rs34030799 0.01484
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079 0.01483
NM_021926.4(ALX4):c.*3596C>G rs11037919 0.01480
NM_016955.4(SEPSECS):c.*3848C>T rs111294195 0.01439
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_000368.5(TSC1):c.*1785A>G rs74362385 0.01398
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_001077446.4(TSEN34):c.*688T>A rs115025822 0.01302
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=) rs116321373 0.01259
NM_021926.4(ALX4):c.*1901A>G rs78007447 0.01238
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_025265.4(TSEN2):c.-220G>A rs182837891 0.01211
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_000368.5(TSC1):c.*2418G>A rs114415181 0.01175
NM_016955.4(SEPSECS):c.*681A>C rs76926200 0.01167
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_000368.5(TSC1):c.*4057G>A rs17149898 0.01133
NM_021926.4(ALX4):c.*922T>G rs185632337 0.01097
NM_021926.4(ALX4):c.*923C>T rs181642223 0.01096
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_021926.4(ALX4):c.*1227G>A rs76501131 0.01081
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_025265.4(TSEN2):c.-199G>T rs41293381 0.01068
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_000368.5(TSC1):c.*841C>T rs149902841 0.01013
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_001077446.4(TSEN34):c.*815G>A rs36620 0.00944
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_016955.4(SEPSECS):c.1120+12T>C rs4697552 0.00916
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_025265.4(TSEN2):c.108A>G (p.Glu36=) rs77258715 0.00898
NM_018082.6(POLR3B):c.*565G>A rs55715506 0.00886
NM_021926.4(ALX4):c.*902G>A rs76229477 0.00875
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=) rs147625988 0.00840
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_021926.4(ALX4):c.*1713G>C rs76845793 0.00799
NM_021926.4(ALX4):c.*156G>A rs376658247 0.00776
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=) rs201655779 0.00768
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_005027.4(PIK3R2):c.1736+12C>T rs112411913 0.00759
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_021926.4(ALX4):c.918G>A (p.Pro306=) rs145904583 0.00731
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_018082.6(POLR3B):c.-1C>T rs117873765 0.00704
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) rs115959591 0.00697
NM_005027.4(PIK3R2):c.415+18dup rs200295171 0.00686
NM_021926.4(ALX4):c.*1345G>A rs113781536 0.00680
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_016955.4(SEPSECS):c.*3775A>G rs115004931 0.00670
NM_021926.4(ALX4):c.*3012C>G rs117877500 0.00663
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00644
NM_021926.4(ALX4):c.*2507G>A rs75369525 0.00635
NM_021926.4(ALX4):c.*1131T>C rs10458913 0.00627
NM_016955.4(SEPSECS):c.*2123A>G rs142960382 0.00625
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_018082.6(POLR3B):c.*582C>G rs75217257 0.00616
NM_021926.4(ALX4):c.*266T>G rs60998360 0.00609
NM_138959.3(VANGL1):c.*1627A>G rs149888685 0.00606
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr) rs144632022 0.00602
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_018082.6(POLR3B):c.2877C>T (p.His959=) rs148708579 0.00569
NM_002449.5(MSX2):c.*466G>A rs148083483 0.00560
NM_016955.4(SEPSECS):c.*454C>T rs77936887 0.00552
NM_001077446.4(TSEN34):c.*175T>C rs77548142 0.00549
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00544
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_021926.4(ALX4):c.69G>C (p.Pro23=) rs115968657 0.00532
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_016955.4(SEPSECS):c.*2840T>C rs144070806 0.00524
NM_000368.5(TSC1):c.*2872G>A rs2106345 0.00508
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val) rs17849378 0.00493
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_001077446.4(TSEN34):c.*109A>G rs181231588 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_000368.5(TSC1):c.*3952A>G rs114454155 0.00436
NM_025265.4(TSEN2):c.*78G>A rs735640 0.00427
NM_001077446.4(TSEN34):c.39G>A (p.Val13=) rs184898622 0.00426
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_021926.4(ALX4):c.*2828C>T rs77015141 0.00418
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_021926.4(ALX4):c.*3769T>C rs116662493 0.00400
NM_000368.5(TSC1):c.*2461G>A rs73552806 0.00396
NM_021926.4(ALX4):c.*3773A>G rs114755169 0.00394
NM_002449.5(MSX2):c.*1007T>A rs74292295 0.00387
NM_002449.5(MSX2):c.*257T>C rs187794452 0.00385
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723 0.00357
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_005465.7(AKT3):c.1416C>G (p.Ser472=) rs148332912 0.00352
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_000368.5(TSC1):c.-99C>T rs114755636 0.00347
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888 0.00320
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) rs114727970 0.00316
NM_002449.5(MSX2):c.*723A>C rs115604243 0.00315
NM_000368.5(TSC1):c.*3729G>T rs543396172 0.00309
NM_021926.4(ALX4):c.*2244G>A rs183882854 0.00303
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) rs116415979 0.00302
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_021926.4(ALX4):c.*997C>G rs192668810 0.00293
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) rs75288720 0.00287
NM_000368.5(TSC1):c.*1902T>G rs142038787 0.00285
NM_000368.5(TSC1):c.*2708G>C rs150433809 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_001077446.4(TSEN34):c.*865A>G rs187570218 0.00272
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_021926.4(ALX4):c.*2673T>A rs146304390 0.00260
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_021926.4(ALX4):c.*963G>A rs140400459 0.00249
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val) rs10413655 0.00240
NM_000368.5(TSC1):c.*2354A>G rs114877981 0.00232
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_002449.5(MSX2):c.*1249T>C rs139249455 0.00219
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001044385.3(TMEM237):c.554-15G>A rs144051344 0.00213
NM_021926.4(ALX4):c.*524C>T rs534068592 0.00212
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.396-14C>T rs74411816 0.00210
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
NM_000368.5(TSC1):c.*1127C>T rs139119563 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) rs144843243 0.00192
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00188
NM_021926.4(ALX4):c.*1913G>A rs189662898 0.00188
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_021926.4(ALX4):c.*46G>A rs72905941 0.00185
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_021926.4(ALX4):c.*262G>A rs560751940 0.00180
NM_021926.4(ALX4):c.*3123G>A rs182987016 0.00175
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_021926.4(ALX4):c.*1629C>T rs184605209 0.00172
NM_021926.4(ALX4):c.*2845G>A rs182853569 0.00172
NM_001368809.2(AMPD2):c.1984-15C>G rs368592941 0.00168
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) rs148209667 0.00165
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_000368.5(TSC1):c.*2733A>G rs73552805 0.00162
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) rs35337955 0.00159
NM_000368.5(TSC1):c.*2874G>A rs111832812 0.00158
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_021926.4(ALX4):c.*1048C>T rs532888348 0.00153
NM_001368809.2(AMPD2):c.1276-20A>G rs140464475 0.00149
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_005465.7(AKT3):c.1359T>C (p.Asp453=) rs142844303 0.00141
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) rs140376049 0.00139
NM_000368.5(TSC1):c.*2142T>C rs112314368 0.00135
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_021926.4(ALX4):c.*1088G>A rs149094042 0.00135
NM_002449.5(MSX2):c.*1050T>C rs184931219 0.00133
NM_005027.4(PIK3R2):c.1416+11C>T rs140187437 0.00133
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901 0.00128
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) rs143719918 0.00127
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235 0.00126
NM_021926.4(ALX4):c.*782A>G rs373562733 0.00123
NM_021926.4(ALX4):c.*1121C>T rs146483327 0.00118
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) rs370163562 0.00109
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) rs112859649 0.00108
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln) rs202165114 0.00108
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=) rs114463063 0.00101
NM_002449.5(MSX2):c.*635G>A rs192627117 0.00101
NM_002449.5(MSX2):c.117C>T (p.Arg39=) rs376630472 0.00097
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys) rs558127851 0.00095
NM_001368809.2(AMPD2):c.1408-12C>T rs189047791 0.00090
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043 0.00086
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=) rs140523354 0.00083
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala) rs117911920 0.00081
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=) rs143654828 0.00080
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) rs146987351 0.00079
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_005027.4(PIK3R2):c.1416+15G>A rs202218011 0.00076
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_018082.6(POLR3B):c.-106A>G rs560914710 0.00070
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_018082.6(POLR3B):c.2084-15C>T rs181026609 0.00061
NM_018082.6(POLR3B):c.399C>T (p.Ile133=) rs147328031 0.00060
NM_138959.3(VANGL1):c.285C>T (p.Ile95=) rs140451005 0.00060
NM_000368.5(TSC1):c.*3448C>T rs201092466 0.00056
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=) rs140686003 0.00052
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_005465.7(AKT3):c.285-13C>T rs201603638 0.00051
NM_016955.4(SEPSECS):c.*223G>A rs146860744 0.00051
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu) rs201029925 0.00048
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_005465.7(AKT3):c.807C>T (p.Tyr269=) rs150205993 0.00044
NM_000368.5(TSC1):c.*3538A>G rs533324867 0.00041
NM_021926.4(ALX4):c.*1365C>A rs529798397 0.00041
NM_005027.4(PIK3R2):c.1809-17A>G rs199501065 0.00040
NM_021926.4(ALX4):c.*4105C>T rs560087261 0.00040
NM_005465.7(AKT3):c.792C>T (p.Ser264=) rs77764554 0.00039
NM_014846.4(WASHC5):c.2668-19C>T rs368313044 0.00038
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_001082486.2(ACD):c.99+18G>A rs369046068 0.00036
NM_005027.4(PIK3R2):c.323-15del rs573541270 0.00036
NM_005465.7(AKT3):c.46+12G>A rs184404650 0.00036
NM_020320.5(RARS2):c.879-6T>C rs117516147 0.00036
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_000368.5(TSC1):c.*3988G>A rs563835484 0.00034
NM_000368.5(TSC1):c.*405A>G rs560193480 0.00034
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001368809.2(AMPD2):c.532-18G>A rs41314005 0.00032
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=) rs749028997 0.00031
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His) rs367971686 0.00031
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_021926.4(ALX4):c.*2750G>A rs372769669 0.00029
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln) rs762238231 0.00028
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400 0.00028
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) rs368182922 0.00026
NM_005027.4(PIK3R2):c.323-16_323-15del rs374033727 0.00025
NM_000368.5(TSC1):c.*2628G>C rs189852768 0.00024
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_000368.5(TSC1):c.*4788A>C rs576342925 0.00021
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=) rs757521991 0.00021
NM_002449.5(MSX2):c.*1178C>T rs182072112 0.00021
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_021926.4(ALX4):c.226C>A (p.Pro76Thr) rs79200219 0.00018
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_014846.4(WASHC5):c.2199+4C>A rs145721086 0.00016
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=) rs141396033 0.00015
NM_005027.4(PIK3R2):c.1011-19A>G rs373122934 0.00015
NM_005465.7(AKT3):c.1398G>A (p.Pro466=) rs150573714 0.00015
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_021926.4(ALX4):c.-36G>C rs533107251 0.00012
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055 0.00011
NM_021926.4(ALX4):c.*3999C>T rs369328027 0.00011
NM_001368809.2(AMPD2):c.1080+9T>C rs202160763 0.00010
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu) rs146695372 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_015631.6(TCTN3):c.933G>T (p.Leu311=) rs371380545 0.00008
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=) rs184805842 0.00007
NM_000368.5(TSC1):c.*2168C>T rs532469694 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001368809.2(AMPD2):c.2158-9C>A rs756915998 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_021926.4(ALX4):c.*437C>T rs542591808 0.00006
NM_021926.4(ALX4):c.1106G>A (p.Gly369Glu) rs750221052 0.00006
NM_000368.5(TSC1):c.231C>T (p.Asn77=) rs397514809 0.00005
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) rs1041937206 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_000368.5(TSC1):c.*1508A>G rs552190342 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_001044385.3(TMEM237):c.274+11A>G rs200487330 0.00004
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=) rs544767440 0.00004
NM_002449.5(MSX2):c.49G>A (p.Gly17Ser) rs754789827 0.00004
NM_002449.5(MSX2):c.723G>A (p.Pro241=) rs201103544 0.00004
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=) rs200914853 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001368809.2(AMPD2):c.-52C>G rs570541266 0.00003
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=) rs546014325 0.00003
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn) rs200547165 0.00003
NM_138959.3(VANGL1):c.518G>A (p.Arg173His) rs148341022 0.00003
NM_000368.5(TSC1):c.*1052G>A rs562950766 0.00002
NM_000368.5(TSC1):c.*4385G>T rs552453527 0.00002
NM_000368.5(TSC1):c.-35G>A rs370122384 0.00002
NM_001044385.3(TMEM237):c.74+16A>G rs538615771 0.00002
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn) rs774502328 0.00002
NM_005465.7(AKT3):c.1163+16C>T rs781443210 0.00002
NM_020320.5(RARS2):c.-13C>T rs200228607 0.00002
NM_000368.5(TSC1):c.*651C>G rs369911288 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) rs754457018 0.00001
NM_002449.5(MSX2):c.756G>A (p.Val252=) rs542254664 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_004958.4(MTOR):c.3117+34G>A rs545304092 0.00001
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu) rs1239460949 0.00001
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp) rs770694944 0.00001
NM_005465.7(AKT3):c.1044C>T (p.Asn348=) rs199771220 0.00001
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) rs562472225 0.00001
NM_021926.4(ALX4):c.474G>C (p.Glu158Asp) rs553689111 0.00001
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NM_000368.5(TSC1):c.*1507G>A rs739441
NM_000368.5(TSC1):c.*198T>C rs7037703
NM_000368.5(TSC1):c.*289del rs11323835
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*4763T>C rs79470094
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000435.3(NOTCH3):c.5913+45T>C rs4809028
NM_001044385.3(TMEM237):c.1159+17del rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.678-20_678-17del rs754336127
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001077446.4(TSEN34):c.*1163C>G rs115093373
NM_001077446.4(TSEN34):c.*245A>C rs4042
NM_001077446.4(TSEN34):c.*385= rs1156850349
NM_001077446.4(TSEN34):c.*385A>C rs36622
NM_001082486.2(ACD):c.743-3dup rs1369632476
NM_001128159.3(VPS53):c.1218+57G>C rs10521105
NM_001128159.3(VPS53):c.1314-19dup rs36070043
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3:c.432-11_432-10insA
NM_001199198.3(TBC1D23):c.1554-49dup rs2148869399
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
NM_001368809.2(AMPD2):c.1863-3dup
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_002449.5(MSX2):c.*1006dup rs397692104
NM_002449.5(MSX2):c.*157A>T rs17063878
NM_002449.5(MSX2):c.*172G>A rs577291689
NM_002449.5(MSX2):c.*878C>T rs554272174
NM_002449.5(MSX2):c.-56C>A rs113874536
NM_002449.5(MSX2):c.380-18C>T
NM_002449.5(MSX2):c.444C>T (p.Pro148=)
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
NM_005027.4(PIK3R2):c.1110-16C>T
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=) rs199931960
NM_005027.4(PIK3R2):c.1416+14C>T
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser) rs769397940
NM_005027.4(PIK3R2):c.1809-7A>T rs201271257
NM_005027.4(PIK3R2):c.1809-8dup rs566994275
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=) rs1258315228
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys) rs80233027
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
NM_005027.4(PIK3R2):c.598+11C>T
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
NM_005465.7(AKT3):c.1251+15T>C
NM_005465.7(AKT3):c.173-23_173-20del rs773557899
NM_005465.7(AKT3):c.430-17dup rs780927904
NM_005465.7(AKT3):c.46+11C>T
NM_005465.7(AKT3):c.628-9dup
NM_005559.4(LAMA1):c.2274+70dup rs113133818
NM_005559.4(LAMA1):c.4479A>G (p.Ser1493=) rs625106
NM_006416.5(SLC35A1):c.*521_*522insAATG rs10681831
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020
NM_014846.4(WASHC5):c.187-6dup rs745362878
NM_014846.4(WASHC5):c.2851-18del
NM_014846.4(WASHC5):c.333-19A>G rs2384916
NM_014846.4(WASHC5):c.333-19A>T
NM_014846.4(WASHC5):c.711+16A>G
NM_014846.4(WASHC5):c.720G>A (p.Ala240=) rs758215702
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
NM_016111.4(TELO2):c.2407+77A>T rs12927760
NM_016111.4(TELO2):c.933+11del rs11344586
NM_016464.5(TMEM138):c.129-11dup
NM_016955.4(SEPSECS):c.115-18dup rs34423002
NM_016955.4(SEPSECS):c.115-4del rs34423002
NM_018082.6(POLR3B):c.1102-3dup rs202125845
NM_018082.6(POLR3B):c.1102-4_1102-3dup rs202125845
NM_018082.6(POLR3B):c.72+184_72+188del rs139244819
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.758-14dup rs1156468685
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_020335.3(VANGL2):c.403C>T (p.Arg135Trp)
NM_021926.4(ALX4):c.*1532G>A rs373805569
NM_021926.4(ALX4):c.*3081C>T rs139681611
NM_021926.4(ALX4):c.*3405G>A rs7115841
NM_021926.4(ALX4):c.*944G>T rs188954464
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025265.4(TSEN2):c.122G>A (p.Arg41His) rs12495784
NM_033026.6(PCLO):c.8778_8780dup (p.Asp2926dup) rs10630259
NM_138959.3(VANGL1):c.*1749G>T rs3811010
NM_138959.3(VANGL1):c.*313A>G rs3811012
NM_138959.3(VANGL1):c.*5633T>G rs4348723
NM_138959.3(VANGL1):c.-226G>C rs116216703

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.