ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.971T>C (p.Met324Thr) rs114250691
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
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
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly)
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr)
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser)
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) rs372799054
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119
NM_025132.4(WDR19):c.3936C>T (p.Ser1312=)
NM_025132.4(WDR19):c.523-3T>C rs747603843
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile)

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