ClinVar Miner

List of variants reported as not provided for autosomal recessive disease by GeneReviews

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 850
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_000271.5(NPC1):c.1926= (p.Met642=) rs1788799 0.26043
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu) rs34523498 0.02942
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His) rs35909061 0.00402
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly) rs34177811 0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser) rs41300592 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) rs80338765 0.00012
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln) rs572177274 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val) rs3766317 0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018965.4(TREM2):c.197C>T (p.Thr66Met) rs201258663 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter) rs148294838 0.00003
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) rs141315771 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg) rs199422124 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) rs141097216 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) rs137852996 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter) rs148559256 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) rs876657416 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.1354-18G>A rs80359865 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 0.00001
NM_001048166.1(STIL):c.2957A>G (p.His986Arg) rs199422205 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met) rs104894414 0.00001
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550 0.00001
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter) rs515726134 0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) rs1131692170 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036 0.00001
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) rs749627411 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) rs113993995 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) rs61893867 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.8668C>T (p.Gln2890Ter) rs199422181 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_018249.6(CDK5RAP2):c.4103C>T (p.Ser1368Phe) rs41309342 0.00001
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu) rs35199933 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) rs1057519343 0.00001
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) rs119468008 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136 0.00001
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) rs587777151 0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys) rs1316615934 0.00001
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.2991+1G>A rs80356594 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile) rs397515600 0.00001
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp) rs397515603 0.00001
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605 0.00001
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln) rs397515608 0.00001
NM_194248.3(OTOF):c.5712+1G>A rs80356604 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.1407+5G>A rs281865464 0.00001
NC_000019.10:g.35905884_35911125del
NG_008254.1:g.48570_71295dup22726
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg) rs2141193741
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp) rs2053335268
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.946-1G>A rs80338801
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000207.2(INS):c.(?_-191)_(187_?)+1del
NM_000207.2(INS):c.-152C>A rs748749585
NM_000207.2(INS):c.-187_-164del rs1135401727
NM_000207.3(INS):c.*59A>G rs397515519
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.-39A>C rs1554921033
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.140G>T (p.Gly47Val) rs80356667
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.268G>T (p.Gly90Cys) rs80356670
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.323A>G (p.Tyr108Cys) rs80356672
NM_000207.3(INS):c.3G>A (p.Met1Ile) rs397515521
NM_000207.3(INS):c.3G>T (p.Met1Ile) rs397515521
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000207.3(INS):c.94G>C (p.Gly32Arg) rs80356664
NM_000208.4(INSR):c.167T>C (p.Ile56Thr) rs1555689937
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) rs1555735951
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) rs387906777
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000260.4(MYO7A):c.223del (p.Asp75fs) rs876657415
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) rs782384464
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro) rs876657417
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro) rs193929364
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu) rs80356640
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys) rs193929366
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) rs1048095
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) rs397515523
NM_000370.3(TTPA):c.205-1G>T rs886040963
NM_000370.3(TTPA):c.303T>G (p.His101Gln) rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) rs397515525
NM_000370.3(TTPA):c.552+2T>A rs886040964
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) rs397515526
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000414.4(HSD17B4):c.244G>T (p.Val82Phe)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3:c.1210-12T[(5_9)]
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1210-12= rs1805177
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp) rs193929358
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu) rs193929333
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val) rs193929333
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg) rs193929337
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr) rs80356618
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) rs80356618
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val) rs193929348
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu) rs80356624
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala) rs193929352
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu) rs193929353
NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val) rs193929353
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile) rs193929357
NM_000553.6(WRN):c.2089-3024A>G rs281865157
NM_000553.6(WRN):c.2179dup (p.Cys727fs) rs281865158
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000553.6(WRN):c.3460-2A>C rs281865159
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793
NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs) rs1554555716
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001017420.3(ESCO2):c.1263+1G>C rs80359863
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) rs80359864
NM_001017420.3(ESCO2):c.1461_1462del (p.Arg487fs) rs80359866
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) rs80359868
NM_001017420.3(ESCO2):c.1674-2A>G rs80359869
NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs) rs80359844
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs) rs80359847
NM_001017420.3(ESCO2):c.417dup (p.Pro140fs) rs80359848
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) rs80359850
NM_001017420.3(ESCO2):c.745_746del (p.Val249fs) rs80359851
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs) rs1554554098
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs) rs80359855
NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs) rs80359856
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu) rs113994156
NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe) rs113994157
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) rs113994158
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) rs104894024
NM_001048166.1(STIL):c.1262A>C (p.Gln421Pro) rs28472545
NM_001048166.1(STIL):c.1263A>C (p.Gln421His) rs28705368
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.2858C>A (p.Ser953Tyr) rs199422204
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter) rs121907898
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg) rs879253766
NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys) rs750281602
NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val) rs879253763
NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter) rs879253764
NM_001128431.4(SLC39A14):c.367C>T (p.Gln123Ter) rs1554519011
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) rs113994160
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]
NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]
NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]
NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) rs121434435
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001384140.1(PCDH15):c.158-1G>A rs876657418
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter) rs1057519585
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.681del (p.Phe227fs) rs1057519586
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) rs104894732
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn) rs1064797088
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn) rs1064797089
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala) rs1064797090
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter) rs80338752
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter) rs80338744
NM_004525.3(LRP2):c.11469_11472del (p.Cys3823fs) rs80338753
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.1341+2T>G rs80338745
NM_004525.3(LRP2):c.2640-1G>A rs587776717
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.770-2A>G rs80338743
NM_004525.3(LRP2):c.8452+1G>A rs80338748
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs) rs80338749
NM_004525.3(LRP2):c.9358_9359del (p.Ser3120fs) rs80338750
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs) rs80338751
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys) rs587777113
NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=) rs80358270
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004937.3(CTNS):c.696dup (p.Val233fs) rs113994209
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) rs1802492
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs) rs77672568
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu) rs79767407
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs) rs78705193
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.5(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) rs1553450718
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) rs80356755
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) rs367543008
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) rs80356754
NM_014425.5(INVS):c.1417del (p.Ala473fs) rs878855332
NM_014425.5(INVS):c.3125del (p.Asn1042fs) rs878855333
NM_015046.7(SETX):c.193G>A (p.Glu65Lys) rs1554825315
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.351G>C (p.Met117Ile)
NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs) rs879253765
NM_015359.6(SLC39A14):c.512G>A (p.Gly171Glu) rs1554519303
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1503+1G>T rs515726142
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.262del (p.Glu88fs) rs768022031
NM_016194.4(GNB5):c.348_352del (p.Asp116fs) rs1085307675
NM_016194.4(GNB5):c.368C>G (p.Ser123Trp)
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_018136.5(ASPM):c.1002del (p.Leu334_Val335insTer) rs199422136
NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter) rs199422201
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) rs199422139
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1406_1413del (p.Asn469fs) rs199422142
NM_018136.5(ASPM):c.1590del (p.Lys530_Val531insTer) rs199422143
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.1990C>T (p.Gln664Ter) rs199422148
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2606C>T (p.Thr869Ile) rs7551108
NM_018136.5(ASPM):c.2761-25A>G rs199422149
NM_018136.5(ASPM):c.2779T>C (p.Leu927=) rs199422129
NM_018136.5(ASPM):c.2936+5G>T rs199422150
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) rs199422153
NM_018136.5(ASPM):c.3082G>A (p.Gly1028Arg) rs199422154
NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter) rs199422155
NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs) rs199422156
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) rs199422157
NM_018136.5(ASPM):c.3663del (p.Arg1221fs) rs199422158
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3741+1G>A rs199422160
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter) rs199422162
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.440del (p.Lys147fs) rs199422133
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4858_4859del (p.Ile1620fs) rs199422166
NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer) rs199422167
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs) rs199422170
NM_018136.5(ASPM):c.6732del (p.Tyr2245fs) rs199422171
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.7461T>A (p.Ile2487=) rs199422130
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs) rs199422172
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.77del (p.Gly26fs) rs199422131
NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs) rs199422174
NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter) rs199422175
NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs) rs199422176
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) rs199422177
NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter) rs199422178
NM_018136.5(ASPM):c.8378del (p.Met2793fs) rs199422179
NM_018136.5(ASPM):c.848C>T (p.Ser283Phe) rs199422128
NM_018136.5(ASPM):c.8508_8509del (p.Lys2837fs) rs199422180
NM_018136.5(ASPM):c.8844del (p.Lys2949fs) rs199422182
NM_018136.5(ASPM):c.9115_9118dup (p.Tyr3040fs) rs199422183
NM_018136.5(ASPM):c.9159del (p.Lys3053fs) rs199422184
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) rs143931757
NM_018136.5(ASPM):c.9507del (p.Ile3170fs) rs199422188
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9595A>T (p.Lys3199Ter) rs199422190
NM_018136.5(ASPM):c.9677dup (p.Cys3226fs) rs199422191
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018136.5(ASPM):c.9686_9690del (p.Ile3229fs) rs199422193
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs) rs199422196
NM_018136.5(ASPM):c.9754del (p.Arg3252fs) rs199422197
NM_018136.5(ASPM):c.9789T>A (p.Tyr3263Ter) rs199422198
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199
NM_018136.5(ASPM):c.9984+1G>T rs199422200
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter) rs199422126
NM_018249.6(CDK5RAP2):c.2599G>A (p.Gly867Arg) rs10984919
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.3989A>T (p.Asn1330Ile) rs7875294
NM_018249.6(CDK5RAP2):c.409G>T (p.Ala137Ser) rs41302645
NM_018249.6(CDK5RAP2):c.4547A>G (p.Glu1516Gly) rs3210500
NM_018249.6(CDK5RAP2):c.546T>G (p.Phe182Leu) rs13287599
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro) rs13287734
NM_018249.6(CDK5RAP2):c.569C>T (p.Ala190Val) rs13287876
NM_018249.6(CDK5RAP2):c.91G>A (p.Asp31Asn) rs58961732
NM_018451.5(CENPJ):c.18del (p.Ser7fs) rs199422202
NM_018451.5(CENPJ):c.2678A>C (p.Gln893Pro) rs41306029
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val) rs121434311
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys) rs797044603
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1398+2T>C rs606231138
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) rs387906298
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del) rs587776875
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) rs387906832
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_021830.5(TWNK):c.968G>A (p.Arg323Gln)
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter) rs878855334
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg) rs587777353
NM_032575.3(GLIS2):c.775+1G>T rs878855335
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup) rs78379807
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_138387.4(G6PC3):c.935dup (p.Asn313fs) rs797044567
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1700_1968+1del rs1553266460
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser) rs797044486
NM_170707.4(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser) rs59267781
NM_170707.4(LMNA):c.1968+1G>A rs113436208
NM_170707.4(LMNA):c.1968+1G>C rs113436208
NM_170707.4(LMNA):c.1968+2T>A rs113860699
NM_170707.4(LMNA):c.1968+2T>C rs113860699
NM_170707.4(LMNA):c.1968+5G>A rs797044488
NM_170707.4(LMNA):c.1968+5G>C rs797044488
NM_170707.4(LMNA):c.1968G>A (p.Gln656=) rs797044487
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) rs60310264
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys) rs797044485
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter) rs776560015
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter) rs1565019976
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs) rs1565019932
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs) rs397515579
NM_194248.3(OTOF):c.1180dup (p.Glu394fs) rs397515580
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1601del (p.Pro534fs) rs397515583
NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter) rs397515584
NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer) rs397515585
NM_194248.3(OTOF):c.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg) rs397515586
NM_194248.3(OTOF):c.1740del (p.Ser581fs) rs397515587
NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys) rs397515588
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu) rs397515589
NM_194248.3(OTOF):c.1886dup (p.Pro630fs) rs80356588
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2214+1G>T rs80356589
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter) rs397515592
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter) rs397515593
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs) rs397515594
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs) rs397515595
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu) rs201329629
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs) rs397515596
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro) rs397515598
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu) rs370609551
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3571-2A>C rs80356597
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter) rs397515602
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs) rs797044816
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4500+2T>G rs80356599
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs) rs397515604
NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys) rs397515606
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp) rs80356583
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg) rs80356606
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.765G>C (p.Gln255His) rs397515611
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs) rs137854528

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.