List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Genetic Services Laboratory, University of Chicago

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)	rs587780289
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	rs1555423217
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)	rs797045427

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