ClinVar Miner

List of variants reported as likely pathogenic for muscular channelopathy

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 535
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs) rs759748892 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) rs199610988 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.1841G>A (p.Arg614His) rs193922772 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) rs746125212 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser) rs774453167 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) rs546411827 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000334.4(SCN4A):c.3394C>T (p.Arg1132Trp) rs778176181 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) rs768345097 0.00002
NM_000069.3(CACNA1S):c.1233-1G>A rs760082356 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000069.3(CACNA1S):c.695-1G>A rs1213421499 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) rs1360333956 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) rs754350357 0.00001
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp) rs753308829 0.00001
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) rs769092535 0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) rs1475869303 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000334.4(SCN4A):c.2005C>T (p.Arg669Cys) rs897448432 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln) rs865887222 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs) rs774319202 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.46-1G>A rs1238479593 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) rs193922801 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000540.3(RYR1):c.7879G>C (p.Val2627Leu) rs914804033 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter) rs764523123 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) rs1389959147 0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) rs761969118 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_000069.3(CACNA1S):c.1005-1G>A
NM_000069.3(CACNA1S):c.1112del (p.Thr371fs)
NM_000069.3(CACNA1S):c.1395del (p.Asp465fs)
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1948+2T>C
NM_000069.3(CACNA1S):c.1949-8_1986del
NM_000069.3(CACNA1S):c.2063+1G>A rs1407484817
NM_000069.3(CACNA1S):c.2158-2A>G rs2102135936
NM_000069.3(CACNA1S):c.2228-1G>A
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
NM_000069.3(CACNA1S):c.2491-2A>G
NM_000069.3(CACNA1S):c.258+2T>C
NM_000069.3(CACNA1S):c.2658-2A>C
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) rs1287079817
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2853+1G>T
NM_000069.3(CACNA1S):c.2854-2A>C rs1572036396
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000069.3(CACNA1S):c.3275C>T (p.Ala1092Val)
NM_000069.3(CACNA1S):c.3326dup (p.Tyr1109Ter)
NM_000069.3(CACNA1S):c.3415-1G>A rs780724976
NM_000069.3(CACNA1S):c.3525+1G>A rs1572033599
NM_000069.3(CACNA1S):c.3526-2A>G rs797045031
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)
NM_000069.3(CACNA1S):c.3953+2C>G rs2102560621
NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+1G>C rs1558056376
NM_000069.3(CACNA1S):c.4113+2T>C
NM_000069.3(CACNA1S):c.4338+1G>A
NM_000069.3(CACNA1S):c.4442-2A>G rs2102553716
NM_000069.3(CACNA1S):c.4543+2T>C rs1572023336
NM_000069.3(CACNA1S):c.4797+1G>A rs1323823133
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373
NM_000069.3(CACNA1S):c.4860del (p.Val1621fs)
NM_000069.3(CACNA1S):c.5042_5048+3del
NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)
NM_000069.3(CACNA1S):c.5226+1G>A
NM_000069.3(CACNA1S):c.5227-2del rs1660108555
NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) rs1802715644
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1064+1G>A
NM_000083.3(CLCN1):c.1064+2T>C
NM_000083.3(CLCN1):c.1099del (p.Tyr367fs)
NM_000083.3(CLCN1):c.122del (p.Gly41fs) rs1802291231
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1246G>A (p.Gly416Arg)
NM_000083.3(CLCN1):c.1247_1251+8del
NM_000083.3(CLCN1):c.1252-1G>T
NM_000083.3(CLCN1):c.1255A>T (p.Met419Leu)
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) rs1563080014
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser) rs1486868849
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu)
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser) rs80356695
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys)
NM_000083.3(CLCN1):c.1471+2del rs2116864878
NM_000083.3(CLCN1):c.1472G>A (p.Gly491Glu)
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
NM_000083.3(CLCN1):c.1509dup (p.Met504fs)
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1582+1G>A
NM_000083.3(CLCN1):c.1582+5G>A
NM_000083.3(CLCN1):c.1592del (p.Ala531fs)
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
NM_000083.3(CLCN1):c.160_176del (p.His54fs)
NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala) rs1474851853
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
NM_000083.3(CLCN1):c.1796+1G>A
NM_000083.3(CLCN1):c.180+1G>A
NM_000083.3(CLCN1):c.180+2_180+8del
NM_000083.3(CLCN1):c.181-2A>G rs1802376231
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1931-1G>A
NM_000083.3(CLCN1):c.1931-1G>C rs2116383424
NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)
NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)
NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)
NM_000083.3(CLCN1):c.2038A>T (p.Lys680Ter)
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp) rs1563087092
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala) rs1803225186
NM_000083.3(CLCN1):c.2284+1G>A
NM_000083.3(CLCN1):c.2364+2T>C
NM_000083.3(CLCN1):c.2365-1G>A
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2403+1G>A
NM_000083.3(CLCN1):c.2508+1G>A
NM_000083.3(CLCN1):c.2509-2A>C
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter)
NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.297T>A (p.Cys99Ter)
NM_000083.3(CLCN1):c.302-1G>A rs529377088
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.316del (p.Leu106fs)
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
NM_000083.3(CLCN1):c.346del (p.Glu116fs)
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr) rs775224495
NM_000083.3(CLCN1):c.433+1G>A
NM_000083.3(CLCN1):c.434-1G>A
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) rs771532474
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
NM_000083.3(CLCN1):c.559del (p.Val187fs)
NM_000083.3(CLCN1):c.562+1G>C rs2116837885
NM_000083.3(CLCN1):c.562+2T>G
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val) rs746401512
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe) rs2116838394
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
NM_000083.3(CLCN1):c.603dup (p.Val202fs)
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) rs2116838620
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
NM_000083.3(CLCN1):c.697-1G>A rs773025750
NM_000083.3(CLCN1):c.697-1G>C rs773025750
NM_000083.3(CLCN1):c.702del (p.Phe235fs)
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.774+3A>C
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) rs2116842799
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe) rs2116842824
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly) rs757109632
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) rs80356688
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
NM_000083.3(CLCN1):c.854-1G>A
NM_000083.3(CLCN1):c.854G>T (p.Gly285Val)
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
NM_000083.3(CLCN1):c.860T>C (p.Leu287Pro)
NM_000083.3(CLCN1):c.869T>C (p.Ile290Thr)
NM_000083.3(CLCN1):c.871G>C (p.Glu291Gln)
NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)
NM_000083.3(CLCN1):c.891del (p.Phe297fs)
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
NM_000083.3(CLCN1):c.902dup (p.Asn301fs)
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.909dup (p.Arg304fs)
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg) rs1802702027
NM_000083.3(CLCN1):c.91_106del (p.Thr31fs)
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.942_960del (p.Phe314fs)
NM_000083.3(CLCN1):c.946T>A (p.Phe316Ile)
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro) rs80356702
NM_000083.3(CLCN1):c.980-2A>G
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn) rs780421370
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000083.3(CLCN1):c.[1444G>A];[1448G>A]
NM_000334.4(SCN4A):c.1037-1G>A
NM_000334.4(SCN4A):c.1043dup (p.Tyr349fs)
NM_000334.4(SCN4A):c.1166del (p.Tyr389fs)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1452+1G>T
NM_000334.4(SCN4A):c.1606+1G>C
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val) rs2144798704
NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys) rs772873287
NM_000334.4(SCN4A):c.2076C>G (p.Ile692Met) rs1224997537
NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2108T>C (p.Leu703Pro) rs2144793242
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2377-1G>A
NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser) rs1287863349
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu) rs1908692348
NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3475T>C (p.Ser1159Pro)
NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)
NM_000334.4(SCN4A):c.4098C>A (p.Asn1366Lys) rs1908594231
NM_000334.4(SCN4A):c.4109T>C (p.Met1370Thr) rs1908593639
NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)
NM_000334.4(SCN4A):c.4366G>T (p.Gly1456Trp) rs2144774834
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu) rs771340029
NM_000334.4(SCN4A):c.4418T>C (p.Phe1473Ser)
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)
NM_000334.4(SCN4A):c.4665del (p.Asn1556fs)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.486_487insGGCG (p.Thr163fs)
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu) rs2144773878
NM_000334.4(SCN4A):c.5061_5062insAGGTGACT (p.Leu1688delinsArgTer)
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5156C>G (p.Thr1719Ser)
NM_000334.4(SCN4A):c.5431_5434dup (p.Pro1812fs)
NM_000334.4(SCN4A):c.611+1G>A
NM_000334.4(SCN4A):c.715A>G (p.Ile239Val) rs1909519361
NM_000334.4(SCN4A):c.749T>G (p.Leu250Arg) rs1057521065
NM_000334.4(SCN4A):c.881G>A (p.Trp294Ter)
NM_000334.4(SCN4A):c.936G>A (p.Trp312Ter)
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) rs1600921854
NM_000540.3(RYR1):c.10687-2A>G rs1600930323
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.1202G>A (p.Arg401His) rs193922766
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12095-2A>G
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr) rs193922844
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu) rs193922852
NM_000540.3(RYR1):c.12700G>T (p.Val4234Leu) rs193922852
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13413del (p.Ile4473fs)
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) rs1599646668
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val) rs756850145
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.1421A>T (p.Gln474Leu) rs2145381188
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val) rs193922878
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu) rs1974410266
NM_000540.3(RYR1):c.14803G>A (p.Gly4935Ser) rs2145913747
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter) rs2145918040
NM_000540.3(RYR1):c.14970-1G>A
NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys) rs118192162
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu) rs193922769
NM_000540.3(RYR1):c.1615T>G (p.Phe539Val) rs193922769
NM_000540.3(RYR1):c.1630G>T (p.Asp544Tyr) rs113812662
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter) rs1967997615
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter) rs759085500
NM_000540.3(RYR1):c.3166G>C (p.Asp1056His) rs2145447772
NM_000540.3(RYR1):c.3382-1G>A
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4019del (p.Gly1340fs)
NM_000540.3(RYR1):c.463C>A (p.Gln155Lys) rs193922750
NM_000540.3(RYR1):c.533A>G (p.Tyr178Cys) rs193922758
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu) rs193922788
NM_000540.3(RYR1):c.6387C>G (p.Asp2129Glu) rs117886618
NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro) rs118192163
NM_000540.3(RYR1):c.6488G>T (p.Arg2163Leu) rs118192163
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe) rs193922792
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) rs2145586397
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys) rs762401851
NM_000540.3(RYR1):c.7090T>G (p.Phe2364Val) rs193922805
NM_000540.3(RYR1):c.7123G>A (p.Gly2375Arg) rs1568501059
NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg) rs1568501059
NM_000540.3(RYR1):c.7233del (p.Glu2412fs) rs2145601896
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu) rs28933396
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val) rs193922812
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.7373G>T (p.Arg2458Leu) rs121918594
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7835+2T>G rs1970195394
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8541+1del
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000540.3(RYR1):c.9886del (p.Leu3296fs)
NM_000540.3(RYR1):c.99G>C (p.Lys33Asn)
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) rs864622292
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) rs199473380
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln) rs104894581
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys) rs199473381
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro) rs199473384
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His) rs199473385
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) rs786205817
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1019_1020del (p.His340fs)
NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs)
NM_019098.5(CNGB3):c.1052del (p.Tyr351fs)
NM_019098.5(CNGB3):c.1055+2T>G
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter)
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter)
NM_019098.5(CNGB3):c.1179-2A>T rs1057517167
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.5(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.5(CNGB3):c.127C>T (p.Gln43Ter)
NM_019098.5(CNGB3):c.129+1G>A
NM_019098.5(CNGB3):c.1318C>T (p.Gln440Ter)
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys) rs35010099
NM_019098.5(CNGB3):c.1405del (p.Tyr469fs)
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1481-2A>C rs1554609978
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1578+2C>G rs1554609943
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)
NM_019098.5(CNGB3):c.163dup (p.Thr55fs) rs1057516782
NM_019098.5(CNGB3):c.1662+2T>C
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019098.5(CNGB3):c.1663-5T>G rs964530890
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro) rs1554607553
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs) rs1554607548
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu) rs1554604833
NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs)
NM_019098.5(CNGB3):c.1870del (p.Leu624fs)
NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro)
NM_019098.5(CNGB3):c.1908del (p.Ile637fs) rs1057516571
NM_019098.5(CNGB3):c.1928+2T>C rs1057517454
NM_019098.5(CNGB3):c.1929-2A>G rs1057517388
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer) rs745557293
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter) rs1554604775
NM_019098.5(CNGB3):c.2085del (p.Lys695fs) rs1585942791
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.2103+1G>T
NM_019098.5(CNGB3):c.2143G>T (p.Glu715Ter)
NM_019098.5(CNGB3):c.2164G>T (p.Glu722Ter)
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs) rs1821654702
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs) rs1057517434
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.5(CNGB3):c.238G>T (p.Gly80Ter)
NM_019098.5(CNGB3):c.269del (p.Asn90fs)
NM_019098.5(CNGB3):c.372_375del (p.Ile124fs)
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs) rs1554614402
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_019098.5(CNGB3):c.494-1G>A
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs) rs1057517053
NM_019098.5(CNGB3):c.567del (p.Trp189fs) rs1057517052
NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)
NM_019098.5(CNGB3):c.643+1G>A
NM_019098.5(CNGB3):c.643G>C (p.Asp215His) rs1174949911
NM_019098.5(CNGB3):c.662G>A (p.Trp221Ter)
NM_019098.5(CNGB3):c.798T>G (p.Tyr266Ter)
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019098.5(CNGB3):c.839dup (p.Gly281fs) rs1281085210
NM_019098.5(CNGB3):c.852+1G>T rs1201521544
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)
NM_019098.5(CNGB3):c.969del (p.Phe323fs)
NM_019098.5(CNGB3):c.991-3T>G rs773372519

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