List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2E by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	rs28936383	0.00001
NM_000232.5(SGCB):c.243+3_243+6del	rs1553940660
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro)	rs104893869
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)	rs104893869
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)	rs104893870
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)	rs751427729
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)	rs1578125670
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)	rs104893868

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