List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00005
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)	rs863224960	0.00003
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	rs80338802	0.00003
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	rs777323132	0.00001
NM_000070.3(CAPN3):c.1536+1G>T	rs1301292668	0.00001
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)	rs886042439	0.00001
NM_000070.3(CAPN3):c.946-2A>G	rs1595826673	0.00001
NM_000070.3(CAPN3):c.1894A>T (p.Lys632Ter)	rs2548287991
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)	rs764086484
NM_000070.3(CAPN3):c.2380+2T>G	rs761935462
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)	rs2548255674
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.853G>T (p.Glu285Ter)	rs2548262153

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