ClinVar Miner

List of variants reported as pathogenic for Senior-Loken syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter) rs746453731 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter) rs145646425 0.00002
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter) rs963142616 0.00002
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) rs748174246 0.00002
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) rs867772426 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) rs1280238814 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter) rs1286714661 0.00001
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947 0.00001
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031 0.00001
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg) rs750055952 0.00001
NM_024753.5(TTC21B):c.1088-1G>C rs753627675 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) rs926405916 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter) rs778039192 0.00001
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NC_000001.10:g.(?_243303219)_(243456541_?)del
NC_000001.10:g.(?_243335979)_(243419562_?)del
NC_000001.11:g.(?_242268256)_(243843190_?)del
NC_000001.11:g.(?_243415682)_(243415849_?)del
NC_000004.11:g.(?_39184178)_(39184203_?)del
NC_000004.11:g.(?_39216201)_(39218880_?)del
NC_000004.11:g.(?_39218734)_(39219745_?)del
NC_000004.11:g.(?_39257448)_(39257600_?)del
NC_000011.9:g.(?_116660844)_(117870356_?)del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) rs121918245
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.333del (p.Ala112fs) rs786200929
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs) rs1156803164
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) rs1474058708
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) rs772827691
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs) rs778900414
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
NM_006642.5(SDCCAG8):c.1324dup (p.Gln442fs) rs747911477
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs) rs387906218
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter) rs1573920009
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter) rs2080721288
NM_006642.5(SDCCAG8):c.1946_1949del (p.Cys649fs) rs397515336
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter) rs756518004
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs) rs2149263988
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter) rs201658593
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) rs768207230
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) rs1558264626
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs) rs2042674113
NM_014956.5(CEP164):c.1298del (p.Leu433fs)
NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter) rs2136139535
NM_014956.5(CEP164):c.1481dup (p.Pro495fs) rs752518735
NM_014956.5(CEP164):c.1482del (p.Gln496fs)
NM_014956.5(CEP164):c.1501C>T (p.Gln501Ter)
NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)
NM_014956.5(CEP164):c.1534dup (p.Glu512fs)
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter) rs387907311
NM_014956.5(CEP164):c.1657C>T (p.Gln553Ter)
NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)
NM_014956.5(CEP164):c.1921G>T (p.Glu641Ter)
NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter) rs2136318333
NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)
NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)
NM_014956.5(CEP164):c.2481del (p.Tyr828fs)
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)
NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter) rs377597884
NM_014956.5(CEP164):c.266dup (p.Asp89fs) rs1565454034
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs) rs1317765862
NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)
NM_014956.5(CEP164):c.2942_2943del (p.Glu981fs) rs2136450623
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.2998del (p.Ile1000fs)
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)
NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter) rs2136466034
NM_014956.5(CEP164):c.3193del (p.Asp1065fs)
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro) rs387907309
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs) rs1565455033
NM_014956.5(CEP164):c.349_352del (p.Glu117fs)
NM_014956.5(CEP164):c.3528del (p.Lys1176fs)
NM_014956.5(CEP164):c.3598_3599del (p.Trp1201fs)
NM_014956.5(CEP164):c.3685dup (p.Leu1229fs)
NM_014956.5(CEP164):c.3711_3712del (p.Ser1238fs) rs2047013877
NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)
NM_014956.5(CEP164):c.381del (p.Ser129fs)
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)
NM_014956.5(CEP164):c.40_41del (p.Leu14fs)
NM_014956.5(CEP164):c.4286+1G>T rs2047400808
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg) rs1565649749
NM_014956.5(CEP164):c.591_593delinsCTCCATATATGAGGACAAGACTGCTCTCAGC (p.Leu198fs)
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer) rs1402460878
NM_014956.5(CEP164):c.88_89del (p.Ile29_Leu30insTer)
NM_014956.5(CEP164):c.893del (p.Gly298fs)
NM_015102.5(NPHP4):c.1271del (p.Lys424fs) rs770306587
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs) rs776535691
NM_015650.4(TRAF3IP1):c.1575+6T>G rs886037897
NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met) rs886037898
NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala) rs886037896
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter) rs765903345
NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met) rs886037899
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2218_2222del (p.Ile740fs) rs2137713030
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.366del (p.Lys122fs)
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025132.4(WDR19):c.1080del (p.Ile361fs) rs1553907440
NM_025132.4(WDR19):c.142dup (p.Arg48fs) rs1577823005
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys) rs1215108056
NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)
NM_025132.4(WDR19):c.1777+1del
NM_025132.4(WDR19):c.1867_1868del (p.Gln623fs)
NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs) rs1730535406
NM_025132.4(WDR19):c.203T>A (p.Val68Asp) rs786204852
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2337del (p.Glu780fs)
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter) rs1232301082
NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs) rs2109377653
NM_025132.4(WDR19):c.2481dup (p.Arg828fs) rs2109405851
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2797del (p.Asp933fs)
NM_025132.4(WDR19):c.2972del (p.Asn991fs)
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3457del (p.Ile1153fs)
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_025132.4(WDR19):c.407-2A>G rs374400438
NM_025132.4(WDR19):c.422_423del (p.Arg141fs)
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter) rs1273811425
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)
NM_025132.4(WDR19):c.632dup (p.Leu211fs) rs2109299952
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.697_701dup (p.Val235fs)
NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)
NM_025132.4(WDR19):c.812del (p.Ala271fs)
NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)
Single allele

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