ClinVar Miner

List of variants reported as uncertain significance for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 385
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000083.3(CLCN1):c.2172+3G>A rs758964825 0.00019
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) rs371715660 0.00009
NM_000083.3(CLCN1):c.2403+4A>C rs372826693 0.00009
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln) rs145412643 0.00009
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772 0.00009
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys) rs143506735 0.00008
NM_000083.3(CLCN1):c.637G>A (p.Val213Met) rs756755417 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648 0.00006
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911 0.00005
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) rs747078264 0.00005
NM_000083.3(CLCN1):c.1085G>C (p.Gly362Ala) rs758597490 0.00004
NM_000083.3(CLCN1):c.1358G>A (p.Arg453Gln) rs754440141 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe) rs908274887 0.00004
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00004
NM_000083.3(CLCN1):c.2197C>T (p.Pro733Ser) rs780173260 0.00004
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) rs146453561 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) rs201506176 0.00004
NM_000083.3(CLCN1):c.452C>T (p.Ala151Val) rs145280046 0.00004
NM_000083.3(CLCN1):c.616T>C (p.Tyr206His) rs963470037 0.00004
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val) rs563864511 0.00003
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn) rs1031445351 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304 0.00003
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg) rs752494680 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) rs1320351683 0.00003
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768 0.00003
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile) rs139158852 0.00002
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) rs766432255 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818 0.00002
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly) rs760693424 0.00002
NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala) rs1803209631 0.00002
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204 0.00002
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) rs1243583996 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538 0.00002
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr) rs764347321 0.00002
NM_000083.3(CLCN1):c.392T>C (p.Val131Ala) rs769391461 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1102C>A (p.Leu368Met) rs1198219818 0.00001
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg) rs376144544 0.00001
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys) rs547603982 0.00001
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618 0.00001
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly) rs1288398919 0.00001
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile) rs922819878 0.00001
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557 0.00001
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) rs1322496244 0.00001
NM_000083.3(CLCN1):c.1414A>G (p.Ile472Val) rs767231116 0.00001
NM_000083.3(CLCN1):c.1448G>A (p.Gly483Asp) rs1336878695 0.00001
NM_000083.3(CLCN1):c.1459G>A (p.Val487Met) rs749370790 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala) rs1161052414 0.00001
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala) rs773422802 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561 0.00001
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517 0.00001
NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro) rs777888721 0.00001
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708 0.00001
NM_000083.3(CLCN1):c.209C>T (p.Ser70Leu) rs769312894 0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033 0.00001
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp) rs745586869 0.00001
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) rs373850192 0.00001
NM_000083.3(CLCN1):c.2243T>G (p.Leu748Arg) rs768009397 0.00001
NM_000083.3(CLCN1):c.2253C>G (p.His751Gln) rs767926364 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2390T>C (p.Met797Thr) rs368445765 0.00001
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131 0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg) rs755433272 0.00001
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys) rs1473430259 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525 0.00001
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys) rs139117651 0.00001
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser) rs1168501752 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.2944G>A (p.Asp982Asn) rs1803424950 0.00001
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg) rs1586483209 0.00001
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly) rs555680428 0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814 0.00001
NM_000083.3(CLCN1):c.551C>T (p.Pro184Leu) rs1397098562 0.00001
NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg) rs1802432204 0.00001
NM_000083.3(CLCN1):c.572T>C (p.Ile191Thr) rs756669568 0.00001
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798 0.00001
NM_000083.3(CLCN1):c.632C>T (p.Ala211Val) rs761511512 0.00001
NM_000083.3(CLCN1):c.662C>T (p.Ala221Val) rs748415883 0.00001
NM_000083.3(CLCN1):c.719G>A (p.Ser240Asn) rs758767069 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.91A>G (p.Thr31Ala) rs756977743 0.00001
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) rs1330549395 0.00001
NC_000007.13:g.(?_143013306)_(143049058_?)dup
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1004C>T (p.Thr335Ile)
NM_000083.3(CLCN1):c.1006A>G (p.Asn336Asp) rs2116852905
NM_000083.3(CLCN1):c.1007A>G (p.Asn336Ser)
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1031A>G (p.Asp344Gly)
NM_000083.3(CLCN1):c.1064+6del rs1482886131
NM_000083.3(CLCN1):c.1079T>G (p.Leu360Arg)
NM_000083.3(CLCN1):c.107C>T (p.Pro36Leu)
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
NM_000083.3(CLCN1):c.1114G>A (p.Val372Ile)
NM_000083.3(CLCN1):c.1130G>A (p.Arg377Gln)
NM_000083.3(CLCN1):c.1149C>T (p.Ser383=)
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1167-9C>A rs770515905
NM_000083.3(CLCN1):c.1169G>A (p.Arg390His)
NM_000083.3(CLCN1):c.1169G>T (p.Arg390Leu)
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp) rs368958317
NM_000083.3(CLCN1):c.1195T>C (p.Phe399Leu)
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu) rs1802752292
NM_000083.3(CLCN1):c.1227A>T (p.Gly409=)
NM_000083.3(CLCN1):c.1228A>G (p.Met410Val)
NM_000083.3(CLCN1):c.1243G>A (p.Ala415Thr) rs1023099235
NM_000083.3(CLCN1):c.1251+5G>A rs1802753836
NM_000083.3(CLCN1):c.1254G>T (p.Leu418Phe)
NM_000083.3(CLCN1):c.1276A>C (p.Thr426Pro) rs749846585
NM_000083.3(CLCN1):c.1286A>G (p.Asp429Gly) rs1001314584
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro) rs868831424
NM_000083.3(CLCN1):c.1342G>C (p.Val448Leu)
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe) rs2116855321
NM_000083.3(CLCN1):c.1353C>A (p.His451Gln)
NM_000083.3(CLCN1):c.1354C>T (p.Pro452Ser) rs1416813045
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.1400A>G (p.Lys467Arg)
NM_000083.3(CLCN1):c.1401G>A (p.Lys467=) rs2116855428
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
NM_000083.3(CLCN1):c.1417G>A (p.Val473Met)
NM_000083.3(CLCN1):c.1424C>T (p.Thr475Ile)
NM_000083.3(CLCN1):c.1433C>T (p.Pro478Leu)
NM_000083.3(CLCN1):c.1435A>T (p.Ile479Leu)
NM_000083.3(CLCN1):c.1436T>C (p.Ile479Thr) rs1803011827
NM_000083.3(CLCN1):c.1471G>C (p.Gly491Arg)
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg) rs1586507943
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu) rs1803022284
NM_000083.3(CLCN1):c.149C>G (p.Ala50Gly)
NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)
NM_000083.3(CLCN1):c.1510A>G (p.Met504Val) rs1803022969
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys) rs1271778777
NM_000083.3(CLCN1):c.151G>A (p.Gly51Ser)
NM_000083.3(CLCN1):c.1525G>A (p.Gly509Ser)
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn) rs756490905
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala) rs1802292476
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=) rs1332372122
NM_000083.3(CLCN1):c.1580T>C (p.Ile527Thr) rs1319653705
NM_000083.3(CLCN1):c.1583-13T>A
NM_000083.3(CLCN1):c.1588G>A (p.Ala530Thr)
NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val) rs752814433
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1652G>C (p.Gly551Ala)
NM_000083.3(CLCN1):c.166G>T (p.Val56Phe)
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys) rs779726850
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
NM_000083.3(CLCN1):c.1727C>T (p.Ser576Phe) rs143825889
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu) rs1803094547
NM_000083.3(CLCN1):c.1751T>A (p.Val584Asp)
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)
NM_000083.3(CLCN1):c.180+4A>G rs2116829759
NM_000083.3(CLCN1):c.1805C>A (p.Thr602Asn)
NM_000083.3(CLCN1):c.181A>C (p.Ile61Leu)
NM_000083.3(CLCN1):c.1825A>C (p.Met609Leu)
NM_000083.3(CLCN1):c.1868G>C (p.Gly623Ala)
NM_000083.3(CLCN1):c.1870G>A (p.Glu624Lys)
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.187G>A (p.Gly63Ser)
NM_000083.3(CLCN1):c.1897A>G (p.Thr633Ala)
NM_000083.3(CLCN1):c.1898C>T (p.Thr633Ile)
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn) rs1803111177
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)
NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu) rs1156766492
NM_000083.3(CLCN1):c.193C>G (p.His65Asp)
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys)
NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del) rs1803209334
NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu) rs1322769496
NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys) rs1224200077
NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile) rs1803210699
NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)
NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)
NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)
NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)
NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly) rs1803216360
NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)
NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile) rs2116384407
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) rs984151770
NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)
NM_000083.3(CLCN1):c.2124C>A (p.Phe708Leu)
NM_000083.3(CLCN1):c.2131G>C (p.Val711Leu) rs2116384678
NM_000083.3(CLCN1):c.2136TGAGGA[3] (p.713ED[4]) rs776429032
NM_000083.3(CLCN1):c.214A>G (p.Arg72Gly) rs1219415384
NM_000083.3(CLCN1):c.2161G>A (p.Gly721Ser) rs1300665013
NM_000083.3(CLCN1):c.2173-3C>G rs1169171168
NM_000083.3(CLCN1):c.2173-5T>G
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala) rs539404339
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile) rs1803237753
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val) rs1586483060
NM_000083.3(CLCN1):c.2255A>G (p.Lys752Arg) rs2116386398
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) rs1803241372
NM_000083.3(CLCN1):c.2279C>A (p.Pro760His)
NM_000083.3(CLCN1):c.2284+6G>A
NM_000083.3(CLCN1):c.2329G>C (p.Gly777Arg) rs2116387531
NM_000083.3(CLCN1):c.2330G>T (p.Gly777Val) rs1803256620
NM_000083.3(CLCN1):c.2339G>T (p.Arg780Leu) rs529481237
NM_000083.3(CLCN1):c.235C>T (p.Pro79Ser)
NM_000083.3(CLCN1):c.2376T>A (p.Asp792Glu) rs1803265479
NM_000083.3(CLCN1):c.2403+3G>A
NM_000083.3(CLCN1):c.2403+4A>G
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.2431A>C (p.Ser811Arg) rs2116396688
NM_000083.3(CLCN1):c.2437C>T (p.Pro813Ser)
NM_000083.3(CLCN1):c.2453C>A (p.Ser818Tyr)
NM_000083.3(CLCN1):c.245C>T (p.Thr82Ile) rs2116834657
NM_000083.3(CLCN1):c.2461A>C (p.Ile821Leu)
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
NM_000083.3(CLCN1):c.2464G>A (p.Asp822Asn)
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2498C>T (p.Thr833Ile)
NM_000083.3(CLCN1):c.2503C>T (p.His835Tyr) rs2116397081
NM_000083.3(CLCN1):c.2505C>G (p.His835Gln)
NM_000083.3(CLCN1):c.2508+5G>A rs1401007697
NM_000083.3(CLCN1):c.2519T>G (p.Leu840Arg)
NM_000083.3(CLCN1):c.2531T>C (p.Leu844Pro) rs2116397538
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly) rs1193157349
NM_000083.3(CLCN1):c.2542C>G (p.Leu848Val)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2595G>A (p.Glu865=) rs2116397852
NM_000083.3(CLCN1):c.2596-11C>G rs2116400965
NM_000083.3(CLCN1):c.259A>T (p.Thr87Ser)
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser) rs745344072
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr) rs1319094688
NM_000083.3(CLCN1):c.260C>T (p.Thr87Ile)
NM_000083.3(CLCN1):c.2617C>T (p.His873Tyr) rs2116401119
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser) rs1803409136
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met) rs756135571
NM_000083.3(CLCN1):c.2692G>A (p.Gly898Arg)
NM_000083.3(CLCN1):c.2695G>A (p.Ala899Thr)
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro) rs1803412320
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala) rs1803414359
NM_000083.3(CLCN1):c.2778C>A (p.Ser926=)
NM_000083.3(CLCN1):c.277G>A (p.Glu93Lys)
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2803T>C (p.Ser935Pro) rs1803417569
NM_000083.3(CLCN1):c.2811G>T (p.Glu937Asp)
NM_000083.3(CLCN1):c.2812C>T (p.Pro938Ser)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2831C>T (p.Pro944Leu) rs1226179201
NM_000083.3(CLCN1):c.2860C>G (p.Leu954Val)
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu) rs1803422217
NM_000083.3(CLCN1):c.2896C>G (p.Leu966Val) rs138115069
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His) rs748630375
NM_000083.3(CLCN1):c.2909T>A (p.Leu970Ter)
NM_000083.3(CLCN1):c.2937C>A (p.Asp979Glu)
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
NM_000083.3(CLCN1):c.2941G>A (p.Glu981Lys) rs1586524391
NM_000083.3(CLCN1):c.2945A>C (p.Asp982Ala)
NM_000083.3(CLCN1):c.2947G>A (p.Glu983Lys)
NM_000083.3(CLCN1):c.294A>C (p.Lys98Asn)
NM_000083.3(CLCN1):c.2960T>A (p.Ile987Asn)
NM_000083.3(CLCN1):c.2962C>G (p.Leu988Val)
NM_000083.3(CLCN1):c.2962del (p.Leu988fs) rs748329158
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.343G>A (p.Gly115Arg) rs1802406028
NM_000083.3(CLCN1):c.355A>G (p.Ile119Val)
NM_000083.3(CLCN1):c.365T>A (p.Val122Glu) rs2116836338
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu) rs1802406774
NM_000083.3(CLCN1):c.392T>G (p.Val131Gly) rs769391461
NM_000083.3(CLCN1):c.404T>C (p.Met135Thr)
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala)
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His) rs748639603
NM_000083.3(CLCN1):c.414C>G (p.Val138=)
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn)
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.430C>G (p.Gln144Glu)
NM_000083.3(CLCN1):c.431A>G (p.Gln144Arg)
NM_000083.3(CLCN1):c.433+4G>C
NM_000083.3(CLCN1):c.433+4G>T
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser) rs1475533366
NM_000083.3(CLCN1):c.434-17G>C
NM_000083.3(CLCN1):c.439A>C (p.Lys147Gln)
NM_000083.3(CLCN1):c.43T>C (p.Trp15Arg)
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg) rs1409574232
NM_000083.3(CLCN1):c.487G>A (p.Val163Ile) rs763587236
NM_000083.3(CLCN1):c.497C>G (p.Thr166Ser) rs759966057
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.518T>A (p.Leu173His)
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) rs574259784
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val) rs766286036
NM_000083.3(CLCN1):c.532T>C (p.Phe178Leu)
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)
NM_000083.3(CLCN1):c.542T>C (p.Leu181Pro) rs2116837812
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.562G>A (p.Gly188Ser)
NM_000083.3(CLCN1):c.563-9C>A rs201404573
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp) rs1554434857
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
NM_000083.3(CLCN1):c.596G>A (p.Arg199His)
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
NM_000083.3(CLCN1):c.604G>T (p.Val202Phe)
NM_000083.3(CLCN1):c.619C>T (p.Leu207Phe)
NM_000083.3(CLCN1):c.626T>G (p.Met209Arg) rs1802444087
NM_000083.3(CLCN1):c.629A>G (p.Lys210Arg)
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) rs201113768
NM_000083.3(CLCN1):c.677G>A (p.Gly226Asp)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.696+5G>A rs865899737
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp) rs923380712
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.69G>C (p.Gln23His) rs760729130
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.710A>G (p.His237Arg) rs542648820
NM_000083.3(CLCN1):c.712A>G (p.Ile238Val) rs765718767
NM_000083.3(CLCN1):c.712A>T (p.Ile238Phe)
NM_000083.3(CLCN1):c.715G>C (p.Ala239Pro) rs1454438376
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr) rs1586487813
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.750G>T (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.759C>G (p.Phe253Leu)
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe) rs2116842824
NM_000083.3(CLCN1):c.814_815delinsAA (p.Ala272Asn)
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly) rs1563075892
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.81T>A (p.Phe27Leu)
NM_000083.3(CLCN1):c.826G>T (p.Gly276Cys) rs765181341
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg) rs80190110
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala) rs1586489432
NM_000083.3(CLCN1):c.845C>G (p.Pro282Arg)
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.854-3C>A
NM_000083.3(CLCN1):c.854G>T (p.Gly285Val)
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile) rs762943928
NM_000083.3(CLCN1):c.889T>G (p.Phe297Val) rs2116852202
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000083.3(CLCN1):c.911G>A (p.Arg304Lys)
NM_000083.3(CLCN1):c.923C>T (p.Ala308Val) rs1406554534
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys) rs1586496817
NM_000083.3(CLCN1):c.944T>C (p.Val315Ala)
NM_000083.3(CLCN1):c.949C>A (p.Arg317=) rs1337473924
NM_000083.3(CLCN1):c.966G>C (p.Trp322Cys)
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.984C>T (p.Thr328=)
NM_000083.3(CLCN1):c.984_989del (p.Ile329_Thr330del)
NM_000083.3(CLCN1):c.991_992delinsCT (p.Ala331Leu) rs2116852875
NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly)

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