ClinVar Miner

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

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Total variants: 5
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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.371G>C (p.Gly124Ala) rs587780291 0.00001
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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