ClinVar Miner

List of variants reported as pathogenic for Senior-Loken syndrome by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
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_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
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_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_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
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_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) rs748174246 0.00002
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_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
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_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.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.1763T>A (p.Leu588Ter) rs2080721288
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter) rs756518004
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_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
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.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.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_025132.4(WDR19):c.1080del (p.Ile361fs) rs1553907440
NM_025132.4(WDR19):c.142dup (p.Arg48fs) rs1577823005
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.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.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)

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