ClinVar Miner

List of variants studied for Senior-Loken syndrome 7 by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 18
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NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036

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