ClinVar Miner

List of variants in gene CAPN3 reported as pathogenic for Shoulder girdle muscle weakness; Calf muscle hypertrophy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800

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