ClinVar Miner

List of variants in gene CLCN1 studied for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

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Total variants: 182
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HGVS dbSNP
NC_000007.13:g.(?_143042594)_(143047767_?)del
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NM_000083.2(CLCN1):c.50_434-202del
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val)
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys)
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) rs371715660
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619
NM_000083.3(CLCN1):c.1357del (p.Arg453fs)
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs)
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797
NM_000083.3(CLCN1):c.1402-9C>T rs2272252
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg)
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619
NM_000083.3(CLCN1):c.1471+1G>A rs375596425
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg)
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys)
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) rs1563084597
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser)
NM_000083.3(CLCN1):c.1689T>A (p.Val563=) rs371701131
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)
NM_000083.3(CLCN1):c.1797-9C>T rs41276057
NM_000083.3(CLCN1):c.180+3A>T rs202217420
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe)
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) rs1375543643
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622
NM_000083.3(CLCN1):c.2136_2141TGAGGA[3] (p.713_714ED[4]) rs776429032
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525
NM_000083.3(CLCN1):c.2172+3G>A
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) rs373850192
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val)
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.2285-1G>C rs1222525763
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538
NM_000083.3(CLCN1):c.2339G>A (p.Arg780His) rs529481237
NM_000083.3(CLCN1):c.2364+10G>A rs201855153
NM_000083.3(CLCN1):c.2403+4A>C rs372826693
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) rs146453561
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr)
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131
NM_000083.3(CLCN1):c.2509-3C>T rs375341574
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2596-1G>A rs771721648
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser)
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys)
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp)
NM_000083.3(CLCN1):c.2763_2764TG[1] (p.Val922fs) rs1563091175
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala)
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) rs1320351683
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His)
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) rs776873546
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg)
NM_000083.3(CLCN1):c.302-1G>A
NM_000083.3(CLCN1):c.302-4C>T rs113839156
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser)
NM_000083.3(CLCN1):c.434-10G>A rs566067406
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.434-5C>T rs1290037207
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter)
NM_000083.3(CLCN1):c.480G>C (p.Gln160His)
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
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.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys)
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) rs201113768
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr)
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.751del (p.Ser251fs)
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)
NM_000083.3(CLCN1):c.762C>T (p.Cys254=) rs772027125
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.789del (p.Ser264fs)
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr)
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly)
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.817G>A (p.Val273Met)
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg)
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala)
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) rs1330549395
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys)
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.3(CLCN1):c.949C>A (p.Arg317=)
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430

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