ClinVar Miner

List of variants reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 802
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HGVS dbSNP
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.253G>A (p.Gly85Ser) rs398123075
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser) rs398123080
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val) rs794727475
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly) rs727503786
NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) rs398123103
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) rs398123104
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) rs1569540711
NM_000033.4(ABCD1):c.886T>C (p.Tyr296His) rs797044611
NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser) rs797044610
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg) rs1569550143
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000056.4(BCKDHB):c.290A>T (p.Asp97Val) rs886043103
NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) rs397507713
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.3(CAPN3):c.1745+5G>C rs886042903
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1914_1914+18del rs1555422851
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2255_2257ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2440-3C>G rs761757153
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000081.3(LYST):c.7780+2C>T rs760108842
NM_000088.3(COL1A1):c.1318G>A (p.Gly440Ser) rs794727319
NM_000088.3(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.3(COL1A1):c.2588G>C (p.Gly863Ala) rs886043749
NM_000088.3(COL1A1):c.2930G>T (p.Gly977Val) rs886042308
NM_000088.3(COL1A1):c.3127G>A (p.Gly1043Arg) rs886044125
NM_000088.3(COL1A1):c.959G>A (p.Gly320Asp) rs72645353
NM_000089.3(COL1A2):c.1694G>C (p.Gly565Ala) rs794727470
NM_000089.3(COL1A2):c.2189G>T (p.Gly730Val) rs1562905224
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2656G>A (p.Gly886Ser) rs886043796
NM_000089.3(COL1A2):c.2693G>T (p.Gly898Val) rs794727669
NM_000089.3(COL1A2):c.2738G>T (p.Gly913Val) rs886042129
NM_000089.3(COL1A2):c.3793T>C (p.Ser1265Pro) rs886044109
NM_000090.3(COL3A1):c.1151G>T (p.Gly384Val) rs794727181
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000093.4(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000117.2(EMD):c.284_298del (p.Tyr95_Tyr99del) rs398123156
NM_000123.3(ERCC5):c.2678+1G>A rs886044319
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr) rs1554875536
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000128.3(F11):c.3G>T (p.Met1Ile) rs755700350
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000137.3(FAH):c.1027G>T (p.Gly343Trp)
NM_000143.3(FH):c.1020T>A (p.Asn340Lys) rs398123159
NM_000143.3(FH):c.1255T>C (p.Ser419Pro) rs200004220
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) rs886042645
NM_000153.4(GALC):c.862T>C (p.Trp288Arg) rs398123177
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser) rs749047676
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.291C>G (p.Asn97Lys)
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) rs398123184
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.985T>C (p.Ser329Pro) rs398123188
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000157.4(GBA):c.928A>G (p.Ser310Gly)
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000169.2(GLA):c.1024C>G (p.Arg342Gly) rs104894843
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.2(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.2(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.2(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.2(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) rs1569304218
NM_000169.2(GLA):c.41T>C (p.Leu14Pro)
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser)
NM_000169.2(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.2(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.2(GLA):c.887T>C (p.Met296Thr)
NM_000169.2(GLA):c.893A>G (p.Asn298Ser) rs1569302985
NM_000169.2(GLA):c.896A>G (p.Asp299Gly) rs1569302982
NM_000169.2(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000179.2(MSH6):c.3909_3913dup (p.Leu1305fs) rs1553333576
NM_000180.3(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg) rs794726973
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser) rs886044680
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000193.4(SHH):c.1040C>G (p.Pro347Arg) rs886042458
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.479C>A (p.Pro160His) rs104894856
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896
NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg) rs794727017
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000232.4(SGCB):c.271C>T (p.Arg91Cys) rs555514820
NM_000232.4(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1947+5G>C rs770321568
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000276.4(OCRL):c.1505T>C (p.Leu502Pro) rs794727137
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000280.4(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) rs757259413
NM_000282.4(PCCA):c.1747-3C>G rs1555455109
NM_000282.4(PCCA):c.2118+1G>A rs886043045
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) rs137861347
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg) rs886042089
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000295.5(SERPINA1):c.646+1G>T rs751235320
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys) rs398123307
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.652C>G (p.His218Asp) rs398123310
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000314.7(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000328.3(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148
NM_000359.3(TGM1):c.758-2A>G rs886042116
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199
NM_000392.5(ABCC2):c.1967+1G>A rs146405172
NM_000400.3(ERCC2):c.594+2_594+5del rs762309206
NM_000404.4(GLB1):c.1004C>T (p.Ala335Val) rs398123347
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1A>C (p.Met1Leu) rs794726886
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr) rs727503954
NM_000434.4(NEU1):c.1230_1234delinsGCCAAA (p.Ser410fs) rs886042881
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583
NM_000455.4(STK11):c.908T>G (p.Ile303Ser) rs727504171
NM_000458.4(HNF1B):c.1561del (p.Gln521fs) rs764042837
NM_000466.3(PEX1):c.3517C>T (p.Gln1173Ter) rs1562842708
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000489.5(ATRX):c.7364_7365AT[1] (p.Met2456fs) rs797044723
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG rs1554848576
NM_000494.4(COL17A1):c.3277+1G>A
NM_000495.5(COL4A5):c.645+2T>C rs1569490387
NM_000512.5(GALNS):c.100_105CTGCTC[1] (p.Leu36_Leu37del) rs794726887
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr) rs398123447
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049
NM_000521.4(HEXB):c.771+5G>C rs727503959
NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys) rs398123450
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000531.6(OTC):c.228A>C (p.Leu76Phe) rs1555972495
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000548.5(TSC2):c.3G>T (p.Met1Ile)
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) rs794727602
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs) rs1555802058
NM_000693.4(ALDH1A3):c.184G>T (p.Glu62Ter) rs1191459372
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) rs398123499
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304
NM_000875.5(IGF1R):c.3187-2A>T rs886042346
NM_000939.4(POMC):c.55C>T (p.Gln19Ter)
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001005741.3(GBA):c.1227C>A (p.Asn409Lys)
NM_001005741.3(GBA):c.431T>G (p.Leu144Arg) rs794727708
NM_001005741.3(GBA):c.521A>G (p.Tyr174Cys) rs781152868
NM_001005741.3(GBA):c.896T>C (p.Ile299Thr) rs794727908
NM_001006657.2(WDR35):c.1501del (p.Gln501fs) rs886044119
NM_001039141.3(TRIOBP):c.3852_3853GA[1] (p.Arg1285fs) rs750744696
NM_001040142.2(SCN2A):c.1178C>A (p.Thr393Lys) rs794727003
NM_001040142.2(SCN2A):c.2713A>G (p.Lys905Glu) rs886043250
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
NM_001040613.2(TMEM70):c.*410_*413del rs746973761
NM_001042537.1(SLC9A6):c.680+5G>A rs796053284
NM_001072.4(UGT1A6):c.1157_1158delinsGT (p.Pro386Arg) rs1559415403
NM_001079846.1(CREBBP):c.4367C>G (p.Pro1456Arg) rs398124147
NM_001079878.2(CNGA3):c.1924C>T (p.Gln642Ter) rs1553450979
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001082538.3(TCTN1):c.979-2A>G rs886044606
NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.3(ACTA1):c.536G>T (p.Arg179Leu) rs727503797
NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001111283.3(IGF1):c.220+1G>T rs1566009282
NM_001113378.1(FANCI):c.286dup (p.Glu96fs) rs1567142658
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser) rs727503940
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001128834.2(PLP1):c.683G>A (p.Cys228Tyr) rs398123466
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys) rs886042452
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001142564.1(CNGA1):c.1836C>G (p.Tyr612Ter) rs1560616550
NM_001142800.2(EYS):c.9400del (p.Val3134fs) rs886042614
NM_001145847.2(PROM1):c.1050+1G>C
NM_001146077.1(CLDN14):c.401del (p.Val134fs) rs1555841710
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) rs1569530837
NM_001159773.2(CANT1):c.836-9G>A rs538543007
NM_001165928.3(DAG1):c.1257del (p.Thr421fs) rs886044452
NM_001165928.3(DAG1):c.2597dup (p.Pro867fs) rs1553653948
NM_001165928.3(DAG1):c.45del (p.Arg16fs) rs1553648360
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001171971.3(CDHR1):c.2040+939_2040+946del rs886044648
NM_001172435.2(RAB3GAP1):c.970dup (p.Leu324fs) rs1231893162
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001193315.1(VIPAS39):c.734+2T>C rs1566731055
NM_001193315.1(VIPAS39):c.958C>T (p.Arg320Ter) rs747749610
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213
NM_001197104.1(KMT2A):c.6034A>T (p.Lys2012Ter)
NM_001206979.2(NR1H4):c.733-2A>G rs1566464880
NM_001206979.2(NR1H4):c.831+1G>A rs1555335782
NM_001206979.2(NR1H4):c.923dup (p.Leu309fs) rs770757947
NM_001234.5(CAV3):c.366dup (p.Leu123fs) rs1553614449
NM_001242957.2(MAK):c.156+2T>C rs1201940872
NM_001253816.1(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997
NM_001256047.1(C19orf12):c.124G>A (p.Gly42Arg) rs200133991
NM_001256850.1(TTN):c.62425+1G>A rs758279518
NM_001258392.3(CLPB):c.1123-2A>G rs1555086480
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.104087del (p.Pro34696fs) rs1553489404
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430
NM_001267550.2(TTN):c.105077_105078del (p.Tyr35026fs) rs1558999779
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter) rs1558995457
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs) rs886043462
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter) rs886044505
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer) rs1558958418
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) rs886044009
NM_001267550.2(TTN):c.49336dup (p.Tyr16446fs) rs797044683
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.51883_51892del (p.Lys17295fs) rs886042414
NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter) rs794727387
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.55896_55908del (p.Arg18632fs) rs1553670762
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.56294del (p.Thr18765fs) rs886044096
NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs) rs1559669161
NM_001267550.2(TTN):c.56359_56360del (p.Pro18787fs) rs1553665556
NM_001267550.2(TTN):c.56716del (p.Glu18906fs) rs1553663997
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828
NM_001267550.2(TTN):c.58699_58700GT[1] (p.Val19567_Ser19568insTer) rs1559614642
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.66160+2T>C rs753146898
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70754del (p.Val23585fs) rs886042441
NM_001267550.2(TTN):c.73332C>A (p.Cys24444Ter)
NM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs) rs1559414146
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180
NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter) rs763822931
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82541_82544dup (p.Arg27515delinsSerTer) rs797044697
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)
NM_001267550.2(TTN):c.84294_84295CT[1] (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter) rs1553563519
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs) rs794727468
NM_001267550.2(TTN):c.90255_90256del (p.Thr30085_Cys30086insTer) rs773840992
NM_001267550.2(TTN):c.90561del (p.Thr30188fs) rs886044318
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs) rs886042502
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.95009del (p.Arg31670fs) rs1559147521
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter) rs1559071558
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99919_99920dup (p.Ala33308fs) rs886043854
NM_001271208.2(NEB):c.18891+1G>A rs1443738549
NM_001277115.2(DNAH11):c.6546G>C (p.Lys2182Asn) rs886042733
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001346418.1(RSPH3):c.631-3725del rs1554289977
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001356.4(DDX3X):c.1712T>C (p.Leu571Ser) rs886043639
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs) rs1553956151
NM_001367624.1(ZNF469):c.11496_11505del (p.Ser3833fs) rs1567517877
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001429.3(EP300):c.3671+5_3671+8delGTAA rs886042977
NM_001558.3(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_001625.4(AK2):c.656del (p.Val219fs) rs1557611080
NM_001807.5(CEL):c.2172del (p.Val725fs) rs780419796
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) rs794727202
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg) rs886042741
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg) rs886043712
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val) rs794727438
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) rs794727462
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.2355+5G>A rs1555166294
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys) rs794727596
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg) rs886044702
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val) rs886042849
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg) rs886043540
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp) rs794727684
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001848.2(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.2(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.2(COL6A1):c.823G>C (p.Gly275Arg) rs1556425467
NM_001848.2(COL6A1):c.833G>A (p.Gly278Glu) rs886043106
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.2(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.2(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.3(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.3(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.3(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.3(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.3(COL6A2):c.866G>T (p.Gly289Val)
NM_001849.3(COL6A2):c.893G>C (p.Gly298Ala) rs1487638242
NM_001849.3(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.3(COL6A2):c.955-1G>A rs886044265
NM_001851.5(COL9A1):c.1052C>A (p.Ser351Ter)
NM_001851.5(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481
NM_001918.4(DBT):c.1447T>C (p.Ter483Arg) rs398123663
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) rs786204613
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680
NM_002303.5(LEPR):c.1226C>A (p.Ala409Glu) rs1446132233
NM_002335.4(LRP5):c.883+2_883+3del rs1565347300
NM_002408.4(MGAT2):c.1006_1009del (p.Asp336fs) rs768879640
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558
NM_002470.4(MYH3):c.850T>G (p.Tyr284Asp) rs886042111
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.3104+2T>A rs747632869
NM_002693.2(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.4(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002857.3(PEX19):c.595-2A>G rs1557853666
NM_002977.3(SCN9A):c.5536del (p.Asp1846fs) rs1553472910
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906
NM_003119.4(SPG7):c.376+1G>T rs746053679
NM_003136.4(SRP54):c.343_345ACA[2] (p.Thr117del) rs1555354198
NM_003165.4(STXBP1):c.1454T>A (p.Ile485Asn) rs1564355642
NM_003165.4(STXBP1):c.87+1G>A rs796053350
NM_003238.5(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003322.6(TULP1):c.1496-6C>A rs281865171
NM_003482.3(KMT2D):c.10740G>A (p.Gln3580=) rs398123700
NM_003482.3(KMT2D):c.15104G>C (p.Cys5035Ser) rs398123723
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003494.4(DYSF):c.3118C>T (p.Arg1040Trp) rs1553556116
NM_003494.4(DYSF):c.4333+2T>A rs759939755
NM_003494.4(DYSF):c.757C>T (p.Arg253Trp) rs149827237
NM_003593.2(FOXN1):c.1195_1225del (p.Cys399fs) rs886043619
NM_003673.3(TCAP):c.43_49dup (p.Arg17delinsLeuTer) rs886044421
NM_003688.3(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys) rs752992432
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys) rs1026511416
NM_003764.4(STX11):c.473del (p.Lys158fs) rs1554294339
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614
NM_003995.3(NPR2):c.1393_1396del (p.Ile465fs) rs886042851
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004006.2(DMD):c.6614+3310G>T rs797045526
NM_004006.2(DMD):c.8217+18052A>G rs886042109
NM_004006.2(DMD):c.8548-2_8549dup rs1556656895
NM_004100.5(EYA4):c.1341-2A>G rs1276849351
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004278.4(PIGL):c.660+1G>A rs768198327
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.3(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.3(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6238G>A (p.Gly2080Ser) rs1553553625
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.6355-1G>A rs113605136
NM_004369.3(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513
NM_004369.3(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser) rs387907231
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_004992.3(MECP2):c.1450_*24del (p.Arg484_Ter487del) rs1557134792
NM_004992.3(MECP2):c.487G>T (p.Gly163Trp) rs1557136974
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004998.4(MYO1E):c.1311del (p.Ile438fs) rs1555411458
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005236.2(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303
NM_005247.4(FGF3):c.625C>T (p.Arg209Ter)
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005603.6(ATP8B1):c.3673del (p.Arg1225fs) rs1568176564
NM_005709.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629
NM_005709.4(USH1C):c.1326+2T>C rs1554954858
NM_005787.6(ALG3):c.444+1G>T rs748878963
NM_005989.4(AKR1D1):c.261+1G>T rs201988060
NM_005989.4(AKR1D1):c.580-1G>A rs749744865
NM_005989.4(AKR1D1):c.843del (p.Glu282fs) rs1562938039
NM_005989.4(AKR1D1):c.93+1G>T rs916587979
NM_005989.4(AKR1D1):c.980G>T (p.Ter327Leu) rs1554394506
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) rs886044563
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006031.6(PCNT):c.3166-2A>C rs774553297
NM_006218.4(PIK3CA):c.311_322del (p.Pro104_Asn107del) rs1553820381
NM_006306.3(SMC1A):c.1279G>A (p.Glu427Lys) rs886044851
NM_006306.3(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.3(SMC1A):c.287G>C (p.Arg96Pro)
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys) rs398124227
NM_006494.4(ERF):c.397_407del (p.Pro133fs) rs1568472223
NM_006516.3(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006517.5(SLC16A2):c.353A>C (p.His118Pro) rs794726933
NM_006517.5(SLC16A2):c.839A>G (p.Tyr280Cys) rs398124231
NM_006731.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375
NM_006920.6(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_006920.6(SCN1A):c.1766A>T (p.Asp589Val) rs398123584
NM_006920.6(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.6(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.6(SCN1A):c.3613G>A (p.Glu1205Lys) rs398123590
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.5108T>C (p.Met1703Thr) rs121917949
NM_006920.6(SCN1A):c.5356G>C (p.Ala1786Pro) rs794727413
NM_007118.4(TRIO):c.6157A>T (p.Arg2053Ter) rs1554086647
NM_007171.3(POMT1):c.1280_1281delinsTC (p.Glu427Val) rs398124243
NM_007171.3(POMT1):c.132A>C (p.Glu44Asp) rs398124244
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) rs139990565
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012210.3(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.3(TRIM32):c.116_122del (p.Cys39fs) rs1554732594
NM_012210.3(TRIM32):c.1569_1575del (p.Glu524fs) rs886044106
NM_012232.6(CAVIN1):c.199C>T (p.Gln67Ter) rs1555588981
NM_013227.3(ACAN):c.1156C>T (p.Arg386Ter) rs773948197
NM_013382.5(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_014009.3(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.3(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014191.4(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_014191.4(SCN8A):c.3985A>G (p.Asn1329Asp) rs794727362
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014491.4(FOXP2):c.502C>T (p.Gln168Ter) rs1563045683
NM_014639.3(TTC37):c.3106del (p.Tyr1036fs) rs1554050112
NM_014749.5(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014795.4(ZEB2):c.3241T>A (p.Cys1081Ser) rs886044396
NM_014797.2(ZBTB24):c.1134del (p.Phe378fs) rs1214978641
NM_014908.3(DOLK):c.165C>A (p.Tyr55Ter) rs1366267146
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015072.5(TTLL5):c.2312C>G (p.Ser771Ter) rs886043466
NM_015102.5(NPHP4):c.4031_4037del (p.Lys1344fs) rs1557578607
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter) rs797044665
NM_015185.3(ARHGEF9):c.310C>T (p.Arg104Trp) rs1556401730
NM_015215.4(CAMTA1):c.4369C>T (p.Arg1457Ter) rs886043243
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008
NM_015295.2(SMCHD1):c.4879dup (p.Thr1627fs) rs886044257
NM_015295.2(SMCHD1):c.5568T>A (p.Cys1856Ter) rs1568383892
NM_015338.5(ASXL1):c.1158_1159GT[2] (p.Val388fs) rs886043994
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter) rs1163473923
NM_015548.5(DST):c.22del (p.Tyr8fs) rs775912185
NM_015560.2(OPA1):c.1199C>T (p.Pro400Leu) rs794727069
NM_015560.2(OPA1):c.2883A>C (p.Ter961Tyr) rs143929819
NM_015560.2(OPA1):c.557-668G>A rs983041061
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593
NM_016239.4(MYO15A):c.6764+2T>A rs763975867
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869
NM_016366.3(CABP2):c.637+1G>T
NM_016955.4(SEPSECS):c.805-1dup rs776969714
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017837.3(PIGV):c.781dup (p.Thr261fs) rs1418108487
NM_017946.3(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018122.5(DARS2):c.159_160del (p.Cys54fs) rs773706813
NM_018249.6(CDK5RAP2):c.1066C>T (p.Gln356Ter) rs1564338190
NM_018451.5(CENPJ):c.3538_3539delinsTG (p.Glu1180Ter) rs1566276461
NM_018475.5(TMEM165):c.151C>T (p.Gln51Ter) rs1560383746
NM_018849.3(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_018849.3(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867
NM_018849.3(ABCB4):c.3745dup (p.Ile1249fs) rs1562945221
NM_018849.3(ABCB4):c.526C>T (p.Arg176Trp) rs754287486
NM_018849.3(ABCB4):c.79A>G (p.Ser27Gly) rs1563012148
NM_019109.4(ALG1):c.1079C>T (p.Ala360Val) rs398124348
NM_019109.4(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.4(ALG1):c.262T>G (p.Leu88Val) rs794727301
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala) rs398124351
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter) rs1555697020
NM_020920.4(CHD8):c.4290+1G>A rs794727436
NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs) rs1564106503
NM_022081.5(HPS4):c.148C>T (p.Gln50Ter)
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989
NM_022437.3(ABCG8):c.63_63+53del rs1553375267
NM_022445.4(TPK1):c.185+1G>A rs747753388
NM_022552.4(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.9019_9023+1del rs750972473
NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_024022.3(TMPRSS3):c.1276G>A (p.Ala426Thr) rs56264519
NM_024022.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921
NM_024301.5(FKRP):c.738_749del (p.Pro247_Thr250del) rs886044496
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904
NM_024408.4(NOTCH2):c.1041del (p.Ser346_Cys347insTer) rs1557826721
NM_024408.4(NOTCH2):c.1567+2T>G rs1557825245
NM_024809.5(TCTN2):c.964dup (p.Thr322fs) rs746186338
NM_024915.4(GRHL2):c.1098+1G>A rs886044309
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.5012+2T>C rs1369768287
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025132.4(WDR19):c.2830_2866del (p.Ile944fs) rs1560541088
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030962.3(SBF2):c.5451+2T>G rs886042830
NM_030962.3(SBF2):c.619+1G>A rs1565150234
NM_031433.4(MFRP):c.169C>T (p.Arg57Ter) rs1422497202
NM_031885.4(BBS2):c.118G>T (p.Val40Phe) rs886043059
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032504.1(UNC80):c.8500del (p.Trp2834fs) rs886043644
NM_032682.5(FOXP1):c.1710_1722+2del rs1559596230
NM_033071.3(SYNE1):c.12847C>T (p.Gln4283Ter) rs886044588
NM_033071.3(SYNE1):c.14955dup (p.Ala4986fs) rs1554455233
NM_033071.3(SYNE1):c.16954C>T (p.Gln5652Ter) rs886044380
NM_033071.3(SYNE1):c.2175del (p.Thr726fs) rs886044155
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033109.5(PNPT1):c.1661del (p.Ile554fs) rs1553493871
NM_033337.2(CAV3):c.137C>T (p.Ala46Val) rs116840773
NM_033517.1(SHANK3):c.4611dup (p.Ser1538fs) rs1555910895
NM_058174.3(COL6A2):c.1770+1del rs886044215
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701
NM_080629.2(COL11A1):c.2405G>A (p.Gly802Asp) rs886044242
NM_080629.2(COL11A1):c.4034_4045del (p.Gly1345_Gly1348del) rs886042660
NM_080679.2(COL11A2):c.1398+3dup rs1554220864
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_080916.3(DGUOK):c.353G>A (p.Arg118His) rs150678946
NM_080916.3(DGUOK):c.444-11C>G rs536746349
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621
NM_130838.3(UBE3A):c.2503_2508del (p.Leu835_Lys836del) rs863225070
NM_130838.3(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138691.2(TMC1):c.1114G>A (p.Val372Met) rs367924428
NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys) rs794727819
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.682A>G (p.Ser228Gly) rs398124491
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) rs398124496
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) rs121918339
NM_144612.6(LOXHD1):c.4989G>A (p.Trp1663Ter) rs1223508098
NM_144672.4(OTOA):c.2148C>A (p.Cys716Ter) rs886044667
NM_144991.3(TSPEAR):c.942C>G (p.Tyr314Ter)
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) rs137955225
NM_152443.3(RDH12):c.59_62CATC[1] (p.Ile22fs) rs794729650
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239
NM_152778.3(MFSD8):c.1A>T (p.Met1Leu) rs1553957829
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153704.5(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.778_780AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_170707.4(LMNA):c.99G>C (p.Glu33Asp) rs57966821
NM_172107.3(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172364.5(CACNA2D4):c.165G>A (p.Trp55Ter) rs1284328591
NM_173076.3(ABCA12):c.5128+2T>C rs1553523630
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173560.4(RFX6):c.576C>A (p.Tyr192Ter) rs781291978
NM_173591.3(OTOGL):c.3186+1G>A rs370730786
NM_173591.3(OTOGL):c.3608-2A>G rs1555296476
NM_173630.4(RTTN):c.3380dup (p.Asn1127fs) rs797044691
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576
NM_183050.4(BCKDHB):c.508C>A (p.Arg170Ser) rs398124581
NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly) rs398124581
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.902T>G (p.Val301Gly) rs398124600
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) rs398124604
NM_183357.2(ADCY5):c.2084G>C (p.Arg695Pro)
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201548.5(CERKL):c.239-1G>A rs1559100465
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_213599.2(ANO5):c.1013+1G>T rs1335126943
NM_213599.2(ANO5):c.242A>G (p.Asp81Gly) rs199501657
NM_213599.2(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.2(ANO5):c.2521-1del rs752982710
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.2599del (p.Arg867fs) rs886042556
NM_213674.1(TPM2):c.279G>T (p.Gln93His) rs727504180
Single allele

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