List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by 3billion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)	rs768090444	0.00002
NM_000070.3(CAPN3):c.1524+1G>T	rs1275289254
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)	rs2053910936
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	rs121434545
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800

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