ClinVar Miner

List of variants in gene combination CLCN1, LOC123956257 reported as pathogenic for myotonia congenita, autosomal dominant

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086 0.00001
NC_000007.14:g.(?_143345501)_(143350674_?)del
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) rs1586514992
NM_000083.3(CLCN1):c.1978del (p.Leu660fs)
NM_000083.3(CLCN1):c.1985del (p.Gln662fs)
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs) rs1586515112
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) rs886042007
NM_000083.3(CLCN1):c.2045del (p.Ser682fs) rs2116384132
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter) rs1417174086
NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)

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