ClinVar Miner

List of variants reported as likely pathogenic by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 445
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HGVS dbSNP
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) rs1555355289
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000051.3(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000068.4(CACNA1A):c.104del (p.Gly35fs) rs1568720031
NM_000068.4(CACNA1A):c.2108-2A>G rs906086634
NM_000068.4(CACNA1A):c.3273_3328del (p.Leu1094fs) rs1555752975
NM_000068.4(CACNA1A):c.4675C>T (p.Gln1559Ter) rs1600180457
NM_000068.4(CACNA1A):c.5143G>A (p.Gly1715Arg) rs1555738200
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2440-2A>G rs769688710
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539
NM_000083.3(CLCN1):c.1401+1G>T rs769861892
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454
NM_000083.3(CLCN1):c.1612_1613CA[2] (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) rs1554434857
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000088.3(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.3(COL1A1):c.256del (p.Val86fs) rs1567764772
NM_000088.4(COL1A1):c.1037del (p.Pro346fs) rs1598297682
NM_000088.4(COL1A1):c.1884del (p.Gly629fs) rs1598293710
NM_000088.4(COL1A1):c.677del (p.Pro226fs) rs1598299754
NM_000089.4(COL1A2):c.3987del (p.Ile1329fs) rs1200377228
NM_000091.4(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.1928-1G>A rs1364800683
NM_000091.4(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.4(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.4(COL4A3):c.547-1G>T rs1240347743
NM_000091.4(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) rs755849032
NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471
NM_000092.4(COL4A4):c.1697-1G>A rs1559569975
NM_000092.4(COL4A4):c.2039G>A (p.Gly680Asp) rs1553646081
NM_000092.4(COL4A4):c.2100_2102delinsGTGT (p.Ser700fs) rs1553644383
NM_000092.4(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299
NM_000092.4(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807
NM_000092.4(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.4(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639
NM_000092.5(COL4A4):c.3842dup (p.Gly1282fs) rs1575895799
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000144.5(FXN):c.165+2_165+3insTT rs1564326640
NM_000144.5(FXN):c.385-1G>C rs1554761915
NM_000144.5(FXN):c.483-2A>G rs1554762735
NM_000144.5(FXN):c.498T>G (p.Tyr166Ter) rs1587832283
NM_000161.3(GCH1):c.13_19del (p.Pro5fs) rs1555362905
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) rs1583591809
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.127C>A (p.Arg43Ser) rs1486280029
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.128G>C (p.Arg43Pro) rs764232985
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1360del (p.Ala454fs) rs1583590393
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.322T>C (p.Tyr108His) rs193922292
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) rs1562715296
NM_000162.5(GCK):c.848del (p.Asn283fs) rs1583596119
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.908G>T (p.Arg303Leu) rs1312678560
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) rs1602349451
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.602del (p.Cys201fs) rs1569215424
NM_000166.6(GJB1):c.842dup (p.Ala282fs) rs1569215591
NM_000170.2(GLDC):c.2607dup (p.Phe870fs) rs1554642300
NM_000209.4(PDX1):c.683_699del (p.Ala228fs) rs1566025668
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) rs1555085761
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.228C>G (p.Ser76Arg) rs1555565283
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.431C>G (p.Pro144Arg) rs1555564032
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs) rs764247288
NM_000338.3(SLC12A1):c.2978del (p.Glu993fs) rs1566861493
NM_000344.3(SMN1):c.109dup (p.Thr37fs) rs1561499582
NM_000344.3(SMN1):c.135dup (p.Ala46fs) rs1554081951
NM_000344.3(SMN1):c.460C>T (p.Gln154Ter) rs1561499692
NM_000344.3(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000349.3(STAR):c.745-1G>C rs374297649
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser) rs1591794677
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410
NM_000368.4(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.4(TSC1):c.211-7T>G rs1554820321
NM_000368.4(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000371.3(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000
NM_000388.4(CASR):c.1913dup (p.Asn639fs) rs1576877163
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter) rs1576878011
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000388.4(CASR):c.823_824del (p.Asp275fs) rs1553766794
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915
NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly) rs763321998
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) rs200881673
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe) rs1568362039
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000454.4(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) rs1601157750
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000475.5(NR0B1):c.542_557del (p.Pro181fs) rs1569268919
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000484.4(APP):c.2032G>C (p.Asp678His) rs63750064
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) rs104894326
NM_000486.5(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000495.5(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_000495.5(COL4A5):c.1340-1G>A rs753437190
NM_000495.5(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_000495.5(COL4A5):c.2024_2029del (p.Gly675_Asp676del) rs1569494903
NM_000495.5(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_000495.5(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_000495.5(COL4A5):c.983del (p.Gly328fs) rs1556407684
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.96del (p.Arg33fs) rs768007725
NM_000500.9(CYP21A2):c.332del (p.Gly111fs) rs1582302950
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994
NM_000525.3(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765
NM_000525.3(KCNJ11):c.532del (p.Ala178fs) rs1554901775
NM_000525.3(KCNJ11):c.774C>A (p.Tyr258Ter) rs1564865232
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000533.5(PLP1):c.789C>A (p.Tyr263Ter) rs1556273075
NM_000545.6(HNF1A):c.494G>A (p.Trp165Ter) rs1555211436
NM_000545.6(HNF1A):c.586del (p.Thr196fs) rs1565885524
NM_000545.6(HNF1A):c.818_820AAG[2] (p.Glu275del) rs1288094664
NM_000545.6(HNF1A):c.956-1G>A rs1565886545
NM_000545.8(HNF1A):c.1531C>T (p.Gln511Ter) rs551484245
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly) rs1593058338
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2453_2455TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) rs1567496821
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3164del (p.Gly1055fs) rs1555510519
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3783del (p.Lys1262fs) rs1555512548
NM_000548.5(TSC2):c.4006-1G>C rs1085307853
NM_000548.5(TSC2):c.4369del (p.Arg1457fs) rs1567524236
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del) rs1555438624
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000702.4(ATP1A2):c.117+1G>A rs1553244022
NM_000702.4(ATP1A2):c.2698G>A (p.Gly900Arg) rs1553245908
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_001003679.3(LEPR):c.1835G>A (p.Arg612His) rs144159890
NM_001008212.2(OPTN):c.1149-2A>G rs867368757
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter) rs1555445579
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12139-1G>T rs1596474257
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.2548_2557del (p.Asp850fs) rs1596575921
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs) rs1567209616
NM_001009944.3(PKD1):c.3716_3718ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.4161_4162AG[2] (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.4894_4901dup (p.Leu1635_Gln1636insTer) rs1567198410
NM_001009944.3(PKD1):c.5245del (p.Val1749fs) rs1555455279
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs) rs1567194928
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.789_843del (p.Leu264fs) rs1596590005
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter) rs377029031
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro) rs1555450487
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001039.4(SCNN1G):c.1697G>A (p.Trp566Ter) rs1596779485
NM_001042492.3(NF1):c.7647del (p.Asp2550fs) rs1597865773
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.699+67del rs1588377489
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001110556.2(FLNA):c.1025_1026TC[1] (p.Ser343fs) rs1557179349
NM_001111125.3(IQSEC2):c.2749+2T>C rs1602277471
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719
NM_001126131.2(POLG):c.3524_3527AGTC[1] (p.Val1177fs) rs1596348547
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001127713.1(ATL1):c.1228G>A (p.Gly410Arg) rs1555365854
NM_001127713.1(ATL1):c.563A>G (p.Gln188Arg) rs1555364153
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5547-1G>C rs1573094617
NM_001142279.2(RNASEH2B):c.698+1G>A rs367915667
NM_001146261.2(SYT14):c.2T>C (p.Met1Thr) rs368545452
NM_001168272.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001195248.2(APTX):c.506_507insCTGG (p.Gln169fs) rs1587449274
NM_001195248.2(APTX):c.686del (p.Thr229fs) rs1587435802
NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_001244710.2(GFPT1):c.1205_1206insGCGTC (p.Gln404fs) rs1574051096
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.31927+1G>T rs1553852989
NM_001267550.2(TTN):c.634C>T (p.Gln212Ter) rs1554042042
NM_001271208.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001277269.1(OTOG):c.3445-2A>G rs934194113
NM_001292063.1(OTOG):c.499del (p.Val167fs) rs876657657
NM_001351834.2(ATM):c.1249del (p.Thr417fs) rs786203166
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs) rs1574903287
NM_001458.4(FLNC):c.8076C>A (p.Tyr2692Ter) rs1563006133
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met) rs1064795077
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val) rs1566370178
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu) rs1566349968
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920
NM_001849.3(COL6A2):c.2646del (p.Phe882fs) rs1555877282
NM_001851.5(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002087.3(GRN):c.1010_1011del (p.Gln337fs) rs1598364961
NM_002087.3(GRN):c.6G>A (p.Trp2Ter) rs1555610855
NM_002087.3(GRN):c.708+6_708+9del rs778599933
NM_002087.3(GRN):c.745C>T (p.Gln249Ter) rs1598364358
NM_002292.4(LAMB2):c.1599-1G>T rs1330915067
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) rs386134163
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346
NM_003361.3(UMOD):c.230G>C (p.Cys77Ser) rs121917768
NM_003850.2(SUCLA2):c.308C>A (p.Ala103Asp) rs1566091706
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004006.2(DMD):c.1304_1331+10del rs1556875089
NM_004006.2(DMD):c.5586+1G>A rs1557292599
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.93+2T>A rs1602765856
NM_004320.5(ATP2A1):c.2011C>T (p.Arg671Ter) rs1555516994
NM_004320.5(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_004369.3(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576
NM_004562.3(PRKN):c.1244C>A (p.Thr415Asn) rs778125254
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004646.3(NPHS1):c.728_729del (p.Pro243fs) rs1599845714
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254
NM_005529.7(HSPG2):c.1219dup (p.Gln407fs) rs763945561
NM_005572.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_005591.3(MRE11):c.1015A>T (p.Lys339Ter) rs984874083
NM_005591.3(MRE11):c.545-1G>A rs1451215042
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs) rs1569539358
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) rs1586128143
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) rs543422544
NM_006920.6(SCN1A):c.4443+6T>G rs1057523807
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006946.4(SPTBN2):c.4986-2A>C rs1450514987
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007217.4(PDCD10):c.150+1G>A rs1553762839
NM_013382.5(POMT2):c.1859_1860AG[2] (p.Ala623fs) rs1555351849
NM_014053.4(FLVCR1):c.1552_1553CA[1] (p.His518fs) rs777543198
NM_014053.4(FLVCR1):c.1561_1564del (p.Ile520_Asn521insTer) rs1572031494
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter) rs1566059895
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014625.3(NPHS2):c.28dup (p.Arg10fs) rs1553316670
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014846.4(WASHC5):c.1597C>T (p.Gln533Ter) rs1586362593
NM_014855.3(AP5Z1):c.355_356CT[4] (p.Leu120fs) rs1554257381
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter) rs751778396
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1A>G (p.Met1Val) rs1557515730
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014946.3(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.3(SPAST):c.1386A>C (p.Lys462Asn) rs1573156433
NM_014946.3(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.3(SPAST):c.363del (p.Lys121fs) rs1553394622
NM_014946.3(SPAST):c.943A>T (p.Lys315Ter) rs1573120705
NM_014946.3(SPAST):c.962_974del (p.Asp321fs) rs1553315223
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter) rs901109960
NM_015046.7(SETX):c.6654+1G>A rs1554806979
NM_015046.7(SETX):c.6727_6728CA[1] (p.His2243fs) rs752122764
NM_015046.7(SETX):c.7119_7120TG[1] (p.Val2374fs) rs765371601
NM_015046.7(SETX):c.7288-2A>G rs1554801819
NM_015295.2(SMCHD1):c.5782dup (p.Ser1928fs) rs1555658855
NM_015346.4(ZFYVE26):c.887-2A>G rs1594937657
NM_015560.2(OPA1):c.1009C>G (p.His337Asp) rs1553877591
NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg) rs1553878554
NM_015560.2(OPA1):c.2818+3G>C rs1553788117
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>T rs863224130
NM_015560.2(OPA1):c.985-2A>T rs886041317
NM_016239.4(MYO15A):c.4321-2A>T rs1597780918
NM_016835.4(MAPT):c.1866+19C>G rs63750162
NM_016835.4(MAPT):c.2116G>A (p.Gly706Arg) rs63750512
NM_017534.6(MYH2):c.1275del (p.Asn425fs) rs1567734638
NM_017890.4(VPS13B):c.3083-1G>A rs1563726973
NM_018075.5(ANO10):c.1797+1G>A rs1206950481
NM_018075.5(ANO10):c.2T>C (p.Met1Thr) rs531656357
NM_018129.4(PNPO):c.264-2A>G rs780977054
NM_018319.4(TDP1):c.1731_1753+646del rs1566929134
NM_018319.4(TDP1):c.2T>G (p.Met1Arg) rs1376503364
NM_018972.4(GDAP1):c.116A>G (p.Lys39Arg) rs1586794308
NM_018972.4(GDAP1):c.287A>G (p.Tyr96Cys) rs1586795440
NM_020247.5(COQ8A):c.1163-2A>G rs1572081759
NM_020247.5(COQ8A):c.148del (p.Gln50fs) rs1553276474
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185
NM_022489.4(INF2):c.326T>G (p.Met109Arg) rs1555373368
NM_024301.5(FKRP):c.1006_1174del (p.Ala336fs) rs1599938271
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724
NM_025137.4(SPG11):c.237C>A (p.Cys79Ter) rs1566838168
NM_025137.4(SPG11):c.3000del (p.Leu1001fs) rs1555454488
NM_030582.4(COL18A1):c.2133del (p.Pro714fs) rs778909108
NM_030665.4(RAI1):c.1321C>T (p.Gln441Ter) rs1555565108
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_144696.6(AXDND1):c.3032-3138del rs1553312368
NM_144696.6(AXDND1):c.3032-32C>G rs369697947
NM_145207.3(SPATA5):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(SPATA5):c.2T>C (p.Met1Thr) rs765170329
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro) rs118192235
NM_175914.4(HNF4A):c.692G>A (p.Arg231Gln) rs1555816615
NM_175914.4(HNF4A):c.868C>T (p.Arg290Cys) rs1555817727
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_182961.4(SYNE1):c.11138_11145del (p.Ser3713fs) rs1590884711
NM_182961.4(SYNE1):c.11662C>T (p.Gln3888Ter) rs1590820792
NM_182961.4(SYNE1):c.13390C>T (p.Gln4464Ter) rs1554471992
NM_182961.4(SYNE1):c.15567del (p.Trp5189fs) rs1590102028
NM_182961.4(SYNE1):c.15897del (p.Met5300fs) rs1057518603
NM_182961.4(SYNE1):c.17003delinsTC (p.Gln5668fs) rs1589780980
NM_182961.4(SYNE1):c.20602C>T (p.Arg6868Ter) rs763818494
NM_182961.4(SYNE1):c.226-1G>A rs1594574182
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.310-489G>T rs1564555089
NM_182961.4(SYNE1):c.480_481CT[1] (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.7494dup (p.Phe2499fs) rs1194460500
NM_194456.1(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_198994.3(TGM6):c.841del (p.Leu281fs) rs1555799865
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369

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