List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	rs776043976	0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	rs863224956	0.00001
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)	rs148851444
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)	rs868791726

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