List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Athena Diagnostics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	rs149095128	0.00018
NM_000070.3(CAPN3):c.499-1G>A	rs863224964	0.00006
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)	rs863224959	0.00004
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)	rs863224960	0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)	rs758795961	0.00002
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	rs774048743	0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)	rs762471207	0.00001
NM_000070.3(CAPN3):c.1992+1G>T	rs863224961
NM_000070.3(CAPN3):c.2381-2A>G	rs863224962
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)	rs863224966

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