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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)	rs762412447	0.00002
NM_000232.5(SGCB):c.1A>G (p.Met1Val)	rs398123262	0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met)	rs762652676	0.00001
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)	rs1553940963
NM_000232.5(SGCB):c.243+1G>T	rs1553940663
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)	rs1018529334
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)	rs104893870
NM_000232.5(SGCB):c.346A>G (p.Met116Val)	rs752168132
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)	rs1013015106
NM_000232.5(SGCB):c.539del (p.Phe180fs)	rs1737176330
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)	rs775458201

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