ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Eurofins-Biomnis

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958

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