List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Myriad Genetics, Inc.

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)	rs746075428
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)	rs2548291183
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)	rs2054157050
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)	rs774048414
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)	rs2054179951
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)	rs752155690
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)	rs2548293398
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)	rs2548294312
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)	rs2054206966
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)	rs2053335168
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)	rs2053442769
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)	rs2548257965
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)	rs763449646
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)	rs757448865
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)	rs2548260565
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)	rs2053484604
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)	rs2053589887

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