ClinVar Miner

List of variants in gene CAPN3 studied for Limb-girdle muscular dystrophy, type 2A; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4

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Total variants: 8
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HGVS dbSNP
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.439C>T rs878854364
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1993-1G>A rs369552114

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