ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00014
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00002
NM_000070.3(CAPN3):c.801+1G>A	rs1459288402

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