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

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Total variants: 16

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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.271C>T (p.Arg91Cys)	rs555514820	0.00002
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	rs28936383	0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)	rs751427686	0.00001
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.102del (p.Glu35fs)	rs2109376007
NM_000232.5(SGCB):c.253_254del (p.Val85fs)	rs1553940274
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)	rs104893869
NM_000232.5(SGCB):c.34-1G>A	rs1484409119
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)	rs1578126090
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)	rs751427729
NM_000232.5(SGCB):c.650del (p.Asn217fs)	rs1553940079
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)	rs771814273

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