ClinVar Miner

List of variants in gene CLCN1 reported as likely pathogenic for Thomsen and Becker disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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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.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
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_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.1642G>A (p.Glu548Lys) rs546411827 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
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.1264G>A (p.Glu422Lys) rs889073641 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 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.2172G>T (p.Glu724Asp) rs753308829 0.00001
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642 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_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1064+1G>A
NM_000083.3(CLCN1):c.1099del (p.Tyr367fs)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
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.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
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.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.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.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.32del (p.Gly11fs)
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.562+1G>C rs2116837885
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.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
NM_000083.3(CLCN1):c.697-1G>C rs773025750
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
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.791C>T (p.Ser264Phe) rs2116842824
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
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.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>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.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg) rs1802702027
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
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]

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