ClinVar Miner

List of variants in gene CLCN1, LOC123956257 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2114C>G (p.Pro705Arg) rs1803220621 0.00001
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) rs200385034

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