ClinVar Miner

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

Included ClinVar conditions (2):
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Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NC_000001.11:g.(?_242268256)_(243843190_?)del
NC_000001.11:g.(?_243415682)_(243415849_?)del
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu)
NM_006642.5(SDCCAG8):c.1068+3A>G
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.1175T>C (p.Met392Thr)
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val)
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys)
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)
NM_006642.5(SDCCAG8):c.1474-6C>T
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val)
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His) rs150646039
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu)
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=)
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg)
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val)
NM_006642.5(SDCCAG8):c.221-4A>G
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568
NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser)
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.307-10T>A
NM_006642.5(SDCCAG8):c.307-1G>A
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser)
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe)
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr)
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile) rs6672843
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404

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