ClinVar Miner

List of variants in gene IRF6 reported as uncertain significance for van der Woude syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_006147.3(IRF6):c.-290C>T rs569844625 0.00125
NM_006147.4(IRF6):c.*575T>A rs561885624 0.00067
NM_006147.4(IRF6):c.*932A>G rs776408684 0.00063
NM_006147.4(IRF6):c.*591T>G rs576516344 0.00021
NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn) rs200808685 0.00020
NM_006147.3(IRF6):c.-299C>G rs886045887 0.00013
NM_006147.4(IRF6):c.*2795G>A rs760763242 0.00012
NM_006147.4(IRF6):c.*1473C>G rs531092939 0.00008
NM_006147.4(IRF6):c.*515G>A rs182317104 0.00008
NM_006147.4(IRF6):c.*2006T>C rs1468618309 0.00006
NM_006147.4(IRF6):c.*2268C>T rs752399888 0.00006
NM_006147.4(IRF6):c.*2344C>T rs866747914 0.00006
NM_006147.4(IRF6):c.*804_*805insT rs886045880 0.00006
NM_006147.4(IRF6):c.*1767G>A rs886045878 0.00004
NM_006147.4(IRF6):c.*2002A>G rs1050174407 0.00004
NM_006147.4(IRF6):c.*2658A>C rs1428189240 0.00004
NM_006147.4(IRF6):c.1007T>G (p.Leu336Arg) rs761816133 0.00004
NM_006147.4(IRF6):c.*1172T>A rs926144526 0.00003
NM_006147.4(IRF6):c.*2064G>A rs886045876 0.00003
NM_006147.4(IRF6):c.888C>T (p.Asp296=) rs748882482 0.00003
NM_006147.4(IRF6):c.-98T>C rs886045886 0.00002
NM_006147.4(IRF6):c.1321C>T (p.Arg441Cys) rs1234188725 0.00002
NM_006147.4(IRF6):c.*1276C>T rs930043539 0.00001
NM_006147.4(IRF6):c.-75-15C>T rs191103054 0.00001
NM_006147.4(IRF6):c.313A>G (p.Met105Val) rs1032249718 0.00001
NM_006147.4(IRF6):c.508+13G>A rs781129893 0.00001
NM_006147.4(IRF6):c.921C>T (p.Ser307=) rs750815592 0.00001
NM_006147.4(IRF6):c.*1123T>C rs886045879
NM_006147.4(IRF6):c.*1474C>T rs895818762
NM_006147.4(IRF6):c.*1585C>T rs1047020008
NM_006147.4(IRF6):c.*1700G>A rs575407072
NM_006147.4(IRF6):c.*1700G>C rs575407072
NM_006147.4(IRF6):c.*1712T>C rs1050315474
NM_006147.4(IRF6):c.*1844G>A rs886045877
NM_006147.4(IRF6):c.*1870G>C rs2077834990
NM_006147.4(IRF6):c.*1999T>C rs2077834086
NM_006147.4(IRF6):c.*219_*220insCA rs886045882
NM_006147.4(IRF6):c.*477G>A rs763919560
NM_006147.4(IRF6):c.*803dup rs886045881
NM_006147.4(IRF6):c.*804C>G rs917524521
NM_006147.4(IRF6):c.-3-11G>C rs886045885
NM_006147.4(IRF6):c.1053C>A (p.Phe351Leu)
NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg) rs1553247744
NM_006147.4(IRF6):c.1061-10C>G
NM_006147.4(IRF6):c.1065C>T (p.Leu355=) rs1317826948
NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)
NM_006147.4(IRF6):c.1247G>A (p.Ser416Asn)
NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser) rs1553247592
NM_006147.4(IRF6):c.1270T>G (p.Ser424Ala) rs2077848377
NM_006147.4(IRF6):c.1368del (p.Ser457fs) rs1553247577
NM_006147.4(IRF6):c.1386del (p.Ala463fs)
NM_006147.4(IRF6):c.1388C>T (p.Ala463Val) rs886045883
NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg) rs1195873569
NM_006147.4(IRF6):c.174+2dup rs1558042839
NM_006147.4(IRF6):c.174G>A (p.Lys58=) rs2077939771
NM_006147.4(IRF6):c.199_213dup (p.Tyr67_Val71dup) rs2077902226
NM_006147.4(IRF6):c.242C>A (p.Ala81Asp) rs1553248270
NM_006147.4(IRF6):c.260T>C (p.Leu87Pro) rs1553248267
NM_006147.4(IRF6):c.264T>A (p.Asn88Lys) rs1553248265
NM_006147.4(IRF6):c.277T>C (p.Phe93Leu) rs2077901853
NM_006147.4(IRF6):c.281A>G (p.Asn94Ser)
NM_006147.4(IRF6):c.290A>G (p.Tyr97Cys)
NM_006147.4(IRF6):c.301A>G (p.Lys101Glu)
NM_006147.4(IRF6):c.327G>C (p.Lys109Asn) rs2102542804
NM_006147.4(IRF6):c.35C>A (p.Pro12His) rs2077940711
NM_006147.4(IRF6):c.379+3G>T
NM_006147.4(IRF6):c.379G>A (p.Gly127Arg)
NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg) rs1558042905
NM_006147.4(IRF6):c.458C>T (p.Ser153Leu)
NM_006147.4(IRF6):c.52G>A (p.Val18Met) rs2077940645
NM_006147.4(IRF6):c.561C>A (p.Ser187Arg)
NM_006147.4(IRF6):c.565G>A (p.Glu189Lys) rs1558039763
NM_006147.4(IRF6):c.586G>C (p.Glu196Gln)
NM_006147.4(IRF6):c.598A>G (p.Met200Val) rs886045884
NM_006147.4(IRF6):c.649T>C (p.Trp217Arg)
NM_006147.4(IRF6):c.665C>T (p.Pro222Leu) rs1571980623
NM_006147.4(IRF6):c.668-5T>G rs1553247787
NM_006147.4(IRF6):c.668-8C>G rs2077865321
NM_006147.4(IRF6):c.683T>C (p.Ile228Thr) rs2102537206
NM_006147.4(IRF6):c.726C>G (p.Thr242=) rs115610019
NM_006147.4(IRF6):c.745T>C (p.Cys249Arg) rs2102537121
NM_006147.4(IRF6):c.754T>G (p.Phe252Val) rs2077864661
NM_006147.4(IRF6):c.805G>A (p.Val269Ile)
NM_006147.4(IRF6):c.819G>C (p.Gln273His) rs2077864346
NM_006147.4(IRF6):c.819_820delinsCA (p.Gln273_Val274delinsHisIle)
NM_006147.4(IRF6):c.82T>G (p.Trp28Gly) rs1553248637
NM_006147.4(IRF6):c.866T>C (p.Leu289Pro) rs2102536986
NM_006147.4(IRF6):c.932T>C (p.Ile311Thr) rs2077863646
NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn) rs1553247754
NM_006147.4(IRF6):c.965A>G (p.Tyr322Cys) rs2102536871

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