ClinVar Miner

List of variants in gene CLCN1 reported as uncertain significance for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

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Total variants: 160
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HGVS dbSNP
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val) rs563864511
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn)
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg)
NM_000083.3(CLCN1):c.1167-9C>A
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys) rs547603982
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp)
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618
NM_000083.3(CLCN1):c.1251+5G>A
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro)
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
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.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His)
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg) rs1586507943
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu)
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys) rs1271778777
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn)
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala)
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=)
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser)
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val)
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=)
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys)
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser)
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala)
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu)
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe) rs908274887
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala)
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly)
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) rs754350357
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.2005C>A (p.Arg669Ser)
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.2026G>C (p.Glu676Gln) rs750187204
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.2062G>T (p.Gly688Trp)
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln)
NM_000083.3(CLCN1):c.2136_2141TGAGGA[3] (p.713_714ED[4]) rs776429032
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala)
NM_000083.3(CLCN1):c.2172+3G>A rs758964825
NM_000083.3(CLCN1):c.2197C>T (p.Pro733Ser)
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala)
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile)
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486
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.224A>T (p.Asp75Val) rs1586483060
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456
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.2341C>T (p.Pro781Ser)
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro)
NM_000083.3(CLCN1):c.2365-3T>C
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) rs139881658
NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg)
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly)
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser) rs745344072
NM_000083.3(CLCN1):c.262G>A (p.Val88Met)
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys) rs1473430259
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr)
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser)
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln)
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro)
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys)
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala)
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser)
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2803T>C (p.Ser935Pro)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.2831C>T (p.Pro944Leu)
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser)
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys)
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.2902G>C (p.Asp968His) rs748630375
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.3(CLCN1):c.2944G>A (p.Asp982Asn)
NM_000083.3(CLCN1):c.2962del (p.Leu988fs)
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg) rs1586483209
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu)
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His)
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser) rs1475533366
NM_000083.3(CLCN1):c.434-10G>A rs566067406
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp)
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val)
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys) rs143506735
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798
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.652G>A (p.Ala218Thr) rs189963844
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.696+5G>A
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
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.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) rs1475869303
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.817G>A (p.Val273Met) rs921162119
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) 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.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln)
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile)
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu)
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) rs1586496817
NM_000083.3(CLCN1):c.949C>A (p.Arg317=) rs1337473924
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) rs780150093

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