ClinVar Miner

List of variants in gene SDCCAG8 studied for Senior-Loken syndrome 7

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NC_000001.11:g.(?_243415682)_(243415849_?)del
NM_006642.5(SDCCAG8):c.-106G>T rs886046328
NM_006642.5(SDCCAG8):c.-121C>T rs768318766
NM_006642.5(SDCCAG8):c.-130C>A rs547776191
NM_006642.5(SDCCAG8):c.-131T>C rs886046327
NM_006642.5(SDCCAG8):c.-47T>A rs3904682
NM_006642.5(SDCCAG8):c.-4G>A rs113193158
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
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.1134A>T (p.Glu378Asp) rs2275155
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr)
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val)
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs) rs387906218
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934
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 rs376414138
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.1517A>G (p.His506Arg)
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser) rs761616528
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=)
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) rs771493123
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=) rs1007802384
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg)
NM_006642.5(SDCCAG8):c.1944_1945GT[1] (p.Cys649fs) rs397515336
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073
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.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.307-10T>A rs371148493
NM_006642.5(SDCCAG8):c.307-1G>A rs1460888769
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln) rs773442925
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730
NM_006642.5(SDCCAG8):c.420+12A>G
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
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.676-4A>G rs377256554
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) rs1558264626
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337
NM_006642.5(SDCCAG8):c.741-7T>C
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445
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.799A>T (p.Lys267Ter) rs1558269718
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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