ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2A by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg) rs761637940

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