ClinVar Miner

List of variants in gene SDCCAG8 reported as uncertain significance for Senior-Loken syndrome 7

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920
NM_006642.5(SDCCAG8):c.799A>T (p.Lys267Ter) rs1558269718
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036

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