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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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>G (p.Gln11Glu)	rs752492870	0.00023
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly)	rs1452778513	0.00006
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu)	rs886158091	0.00002
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)	rs1207685911
NM_000232.5(SGCB):c.10G>C (p.Ala4Pro)
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)	rs768838951
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)	rs768838951
NM_000232.5(SGCB):c.14C>T (p.Ala5Val)	rs886158091
NM_000232.5(SGCB):c.17C>T (p.Ala6Val)	rs1414363052
NM_000232.5(SGCB):c.19G>A (p.Ala7Thr)
NM_000232.5(SGCB):c.26C>T (p.Ala9Val)
NM_000232.5(SGCB):c.32A>G (p.Gln11Arg)	rs2109380807
NM_000232.5(SGCB):c.33+3C>G
NM_000232.5(SGCB):c.33+4T>C
NM_000232.5(SGCB):c.8C>A (p.Ala3Glu)	rs1578130059
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)	rs886044103
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup)	rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup)	rs781364428

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