List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2A by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
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.2338G>C (p.Asp780His)	rs778768583	0.00001
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)	rs781013226
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)	rs1595828703
NM_000070.3(CAPN3):c.1193+6T>A	rs1555421532
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	rs121434545
NM_000070.3(CAPN3):c.483del (p.Ile162fs)	rs863224963
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800

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