List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2E by Natera, Inc.

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	rs150518260	0.00019
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)	rs752492870	0.00007
NM_000232.5(SGCB):c.1_2del (p.Met1fs)	rs886042503	0.00004
NM_000232.5(SGCB):c.1A>G (p.Met1Val)	rs398123262	0.00001
NM_000232.5(SGCB):c.622-2A>G	rs780596734	0.00001
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)	rs750773622

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