List of variants in gene combination LOC129992585, SGCB reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2E

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
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
NC_000004.12:g.(?_52038207)_(52038279_?)del
NM_000232.5(SGCB):c.-10_13del (p.Met1fs)	rs2109380910
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)	rs1553940963
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)	rs1207685911
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs)	rs2109380938
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)	rs1448040082
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)	rs1057517064
NM_000232.5(SGCB):c.2T>C (p.Met1Thr)	rs1737457235
NM_000232.5(SGCB):c.30del (p.Glu10fs)	rs2109380824
NM_000232.5(SGCB):c.32dup (p.Gln12fs)	rs796065319
NM_000232.5(SGCB):c.3G>T (p.Met1Ile)	rs2109380946

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