List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2A by MGZ Medical Genetics Center

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Total variants: 13

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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.1468C>T (p.Arg490Trp)	rs141656719	0.00013
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_000070.3(CAPN3):c.1123G>A (p.Asp375Asn)	rs2053707997
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	rs1555421871
NM_000070.3(CAPN3):c.1508G>C (p.Gly503Ala)	rs2548276719
NM_000070.3(CAPN3):c.1558_1559del (p.Leu520fs)	rs2548279211
NM_000070.3(CAPN3):c.1659G>C (p.Glu553Asp)	rs1566981118
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	rs727503837
NM_000070.3(CAPN3):c.717del (p.Phe239fs)	rs776059672

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