ClinVar Miner

List of variants studied for Senior-Loken syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP
CEP290, 5-BP DEL
NC_000002.12:g.110095383_110217525del122143
NM_000272.3(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.3(NPHP1):c.971T>C (p.Met324Thr) rs114250691
NM_001023570.3(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.3(IQCB1):c.1069C>T (p.Gln357Ter) rs121918245
NM_001023570.3(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.3(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244
NM_001023570.3(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351
NM_001023570.3(IQCB1):c.1518_1519delCA (p.His506Glnfs) rs398123538
NM_001023570.3(IQCB1):c.1522_1523dupGA (p.Ala509Lysfs) rs587783011
NM_001023570.3(IQCB1):c.333del (p.Ala112Glnfs) rs786200929
NM_001023570.3(IQCB1):c.424_425delTT (p.Phe142Profs) rs750962965
NM_001023570.3(IQCB1):c.897_900dupCTTG (p.Ile301Leufs) rs745340459
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter)
NM_001023570.4(IQCB1):c.445_448del (p.Leu149Serfs)
NM_001023570.4(IQCB1):c.825_828del (p.Arg275Serfs)
NM_001291593.1(NPHP4):c.249_252delCTCC (p.Ser84Trpfs) rs747699128
NM_001317924.1(WDR19):c.1649T>C (p.Leu550Ser) rs387906980
NM_006642.3(SDCCAG8):c.221-2A>G rs797045946
NM_006642.3(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.3(SDCCAG8):c.740+356C>T rs397515337
NM_006642.3:c.1575delA
NM_006642.4(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.4(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.4(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155
NM_006642.4(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970
NM_006642.4(SDCCAG8):c.1420delG (p.Glu474Serfs) rs397515335
NM_006642.4(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.4(SDCCAG8):c.1946_1949del (p.Cys649Serfs) rs397515336
NM_006642.4(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.4(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568
NM_006642.4(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.4(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947
NM_006642.4(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.4(SDCCAG8):c.546+1G>A
NM_006642.4(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.4(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920
NM_006642.4(SDCCAG8):c.799A>T (p.Lys267Ter)
NM_006642.4(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_006642.4(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447Glyfs) rs387906218
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
NM_014956.4(CEP164):c.1409+10G>A rs199783386
NM_014956.4(CEP164):c.1430A>G (p.His477Arg) rs117083334
NM_014956.4(CEP164):c.1438C>T (p.Arg480Trp) rs112209873
NM_014956.4(CEP164):c.1452C>T (p.Pro484=) rs373736623
NM_014956.4(CEP164):c.1480C>A (p.Pro494Thr) rs114396665
NM_014956.4(CEP164):c.1573C>T (p.Gln525Ter) rs387907311
NM_014956.4(CEP164):c.1639G>A (p.Glu547Lys) rs116343381
NM_014956.4(CEP164):c.1692G>A (p.Ala564=) rs143512199
NM_014956.4(CEP164):c.1726C>T (p.Arg576Ter) rs145646425
NM_014956.4(CEP164):c.2205C>T (p.Ser735=) rs494553
NM_014956.4(CEP164):c.2427G>A (p.Lys809=) rs201002987
NM_014956.4(CEP164):c.2493+1G>A
NM_014956.4(CEP164):c.2655C>T (p.Thr885=) rs61737637
NM_014956.4(CEP164):c.2689C>T (p.Arg897Ter)
NM_014956.4(CEP164):c.2772C>G (p.Leu924=) rs117473319
NM_014956.4(CEP164):c.277C>T (p.Arg93Trp) rs387907310
NM_014956.4(CEP164):c.2844+8A>G rs142545580
NM_014956.4(CEP164):c.3001C>G (p.Leu1001Val) rs199637319
NM_014956.4(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687
NM_014956.4(CEP164):c.3216+20_3216+33delCTGGGGGCTGGGGC rs200103555
NM_014956.4(CEP164):c.32A>C (p.Gln11Pro) rs387907309
NM_014956.4(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733
NM_014956.4(CEP164):c.3717G>A (p.Pro1239=) rs149567170
NM_014956.4(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269
NM_014956.4(CEP164):c.381dup (p.Lys128Glnfs)
NM_014956.4(CEP164):c.3927C>T (p.Thr1309=) rs115051850
NM_014956.4(CEP164):c.3932C>G (p.Thr1311Ser) rs61743854
NM_014956.4(CEP164):c.395C>G (p.Ala132Gly) rs61746874
NM_014956.4(CEP164):c.4053G>A (p.Thr1351=) rs373842310
NM_014956.4(CEP164):c.4060G>A (p.Asp1354Asn)
NM_014956.4(CEP164):c.4119C>T (p.Asn1373=) rs73016324
NM_014956.4(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_014956.4(CEP164):c.4381T>C (p.Ter1461Arg)
NM_014956.4(CEP164):c.548T>A (p.Met183Lys)
NM_014956.4(CEP164):c.748G>A (p.Gly250Ser) rs146501105
NM_014956.4:c.2562del
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)
NM_015102.3(NPHP4):c.271T>C (p.Phe91Leu) rs201065230
NM_015102.4(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923
NM_015102.4(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197
NM_015102.4(NPHP4):c.2306A>T (p.His769Leu) rs200821373
NM_015102.4(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015102.4(NPHP4):c.254C>T (p.Pro85Leu) rs200272048
NM_015102.4(NPHP4):c.257C>T (p.Pro86Leu) rs201998215
NM_015102.4(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586
NM_015102.4(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152
NM_015102.4(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939
NM_015102.4(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798
NM_015102.4(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553
NM_015102.4(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924
NM_015102.4(NPHP4):c.946C>T (p.Arg316Cys) rs761345213
NM_015650.3(TRAF3IP1):c.1559T>G (p.Met520Arg) rs750055952
NM_015650.3(TRAF3IP1):c.1575+6T>G rs886037897
NM_015650.3(TRAF3IP1):c.373G>A (p.Val125Met) rs886037898
NM_015650.3(TRAF3IP1):c.374T>C (p.Val125Ala) rs886037896
NM_015650.3(TRAF3IP1):c.463C>T (p.Arg155Ter) rs765903345
NM_015650.3(TRAF3IP1):c.51T>G (p.Ile17Met) rs886037899
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs) rs727503855
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.181-2A>G rs886042359
NM_025114.3(CEP290):c.1860_1863delAAGA (p.Arg621Ilefs) rs766608755
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.2668C>T (p.Gln890Ter) rs886044332
NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter) rs886042153
NM_025114.3(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.437delA (p.Glu146Glyfs) rs1452465499
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.5012+2T>C rs1369768287
NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
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.6604delA (p.Ile2202Leufs) rs758329611
NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.7062_7063delGA (p.Lys2355Serfs) rs886042734
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025132.3(WDR19):c.1080delG (p.Ile361Leufs) rs1553907440
NM_025132.3(WDR19):c.1357-10T>C rs16995189
NM_025132.3(WDR19):c.1477G>C (p.Asp493His) rs587777349
NM_025132.3(WDR19):c.1595T>C (p.Ile532Thr) rs749672769
NM_025132.3(WDR19):c.1915A>G (p.Ser639Gly) rs150649460
NM_025132.3(WDR19):c.1982+2T>C
NM_025132.3(WDR19):c.203T>A (p.Val68Asp) rs786204852
NM_025132.3(WDR19):c.2096G>A (p.Arg699Gln) rs138529452
NM_025132.3(WDR19):c.2239A>G (p.Ile747Val) rs144335584
NM_025132.3(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086
NM_025132.3(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209
NM_025132.3(WDR19):c.3383T>C (p.Val1128Ala) rs372799054
NM_025132.3(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_025132.3(WDR19):c.3565+1G>A rs587777352
NM_025132.3(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.3(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119
NM_025132.3(WDR19):c.3966C>T (p.Asn1322=) rs767906377
NM_025132.3(WDR19):c.407-2A>G rs374400438
NM_025132.3(WDR19):c.523-3T>C rs747603843
NM_025132.3(WDR19):c.641dupT (p.Leu214Phefs) rs587777348
NM_025132.3(WDR19):c.910G>A (p.Val304Ile) rs75964850
NM_025132.3(WDR19):c.929A>G (p.Tyr310Cys) rs199783864
NPHP1, DEL

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