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: 92
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HGVS dbSNP
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NM_000083.2(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val)
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.1168C>T (p.Arg390Cys)
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.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
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.139C>T (p.Arg47Trp) rs185031797
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg)
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys)
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser)
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe)
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)
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.2136_2141TGAGGA[3] (p.713_714ED[4]) rs776429032
NM_000083.3(CLCN1):c.2172+3G>A
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)
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)
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.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.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.25C>A (p.Arg9Ser)
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys)
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525
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.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.2902G>C (p.Asp968His)
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg)
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
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.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
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.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)
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.762C>G (p.Cys254Trp)
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
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.857T>C (p.Val286Ala) rs80356689
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.949C>A (p.Arg317=)
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)

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