ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form by Fulgent Genetics, Fulgent Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486 0.00031
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992 0.00015
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 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.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700

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