ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Neurogenomics Lab, Neuroscience Institute, University Of Cape Town

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Total variants: 2

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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.397G>A (p.Ala133Thr)	rs946415346

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