ClinVar Miner

List of variants studied for van der Woude syndrome 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_006147.4(IRF6):c.459G>T (p.Ser153=) rs2013162 0.35925
NM_006147.4(IRF6):c.175-5C>G rs7552506 0.32118
NM_006147.4(IRF6):c.-75-4A>G rs2235377 0.03786
NM_006147.4(IRF6):c.820G>A (p.Val274Ile) rs2235371 0.03768
NM_006147.4(IRF6):c.1153T>C (p.Leu385=) rs61099902 0.02121
NM_006147.4(IRF6):c.759T>C (p.Tyr253=) rs41303263 0.00237
NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn) rs200808685 0.00020
NM_006147.4(IRF6):c.668-4G>T rs376679285 0.00010
NM_006147.4(IRF6):c.711C>T (p.Tyr237=) rs201940391 0.00009
NM_006147.4(IRF6):c.9C>T (p.Leu3=) rs78599614 0.00009
NM_006147.4(IRF6):c.380-4G>A rs373381488 0.00008
NM_006147.4(IRF6):c.351T>G (p.Pro117=) rs550521875 0.00003
NM_006147.4(IRF6):c.888C>T (p.Asp296=) rs748882482 0.00003
NM_006147.4(IRF6):c.921C>T (p.Ser307=) rs750815592 0.00001
NC_000001.10:g.(?_209961765)_(209965792_?)del
NC_000001.10:g.(?_209974565)_(209974778_?)del
NC_000001.10:g.(?_209974565)_(209979435_?)del
NM_006147.3(IRF6):c.-313T>A rs34743335
NM_006147.4(IRF6):c.1045G>T (p.Glu349Ter) rs2102536764
NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser) rs1224922793
NM_006147.4(IRF6):c.1053C>A (p.Phe351Leu)
NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg) rs1553247744
NM_006147.4(IRF6):c.1059C>T (p.Ser353=)
NM_006147.4(IRF6):c.1060+1G>A rs781506407
NM_006147.4(IRF6):c.1061-10C>G
NM_006147.4(IRF6):c.1061-1G>T
NM_006147.4(IRF6):c.1061-7T>C
NM_006147.4(IRF6):c.1089del (p.Ile363fs)
NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs) rs2077940243
NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) rs2077857680
NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser) rs2077857559
NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)
NM_006147.4(IRF6):c.1195del (p.Ala399fs) rs1553247602
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) rs28942095
NM_006147.4(IRF6):c.120G>T (p.Trp40Cys) rs1553248635
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) rs769068305
NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) rs1553247595
NM_006147.4(IRF6):c.1239C>A (p.Ser413=)
NM_006147.4(IRF6):c.1247G>A (p.Ser416Asn)
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
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.1275C>T (p.Thr425=)
NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs) rs1558038218
NM_006147.4(IRF6):c.1315C>T (p.Leu439=) rs1286939391
NM_006147.4(IRF6):c.133del (p.Arg45fs) rs1571986293
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
NM_006147.4(IRF6):c.1368del (p.Ser457fs) rs1553247577
NM_006147.4(IRF6):c.1386del (p.Ala463fs)
NM_006147.4(IRF6):c.1398C>T (p.Pro466=)
NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg) rs1195873569
NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) rs397515434
NM_006147.4(IRF6):c.169T>C (p.Phe57Leu) rs2077939791
NM_006147.4(IRF6):c.174+2dup rs1558042839
NM_006147.4(IRF6):c.174G>A (p.Lys58=) rs2077939771
NM_006147.4(IRF6):c.175G>T (p.Ala59Ser)
NM_006147.4(IRF6):c.176C>T (p.Ala59Val) rs1571983440
NM_006147.4(IRF6):c.179G>A (p.Trp60Ter) rs2077902428
NM_006147.4(IRF6):c.180G>A (p.Trp60Ter) rs2077902411
NM_006147.4(IRF6):c.199_213dup (p.Tyr67_Val71dup) rs2077902226
NM_006147.4(IRF6):c.226C>T (p.Pro76Ser) rs886039388
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu) rs1553248271
NM_006147.4(IRF6):c.235T>C (p.Trp79Arg)
NM_006147.4(IRF6):c.242C>A (p.Ala81Asp) rs1553248270
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) rs121434226
NM_006147.4(IRF6):c.251G>A (p.Arg84His) rs121434227
NM_006147.4(IRF6):c.259C>T (p.Leu87Phe)
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) rs1553248641
NM_006147.4(IRF6):c.260T>C (p.Leu87Pro) rs1553248267
NM_006147.4(IRF6):c.263A>G (p.Asn88Ser) rs2102542868
NM_006147.4(IRF6):c.264T>A (p.Asn88Lys) rs1553248265
NM_006147.4(IRF6):c.269G>C (p.Ser90Thr) rs2102542857
NM_006147.4(IRF6):c.274G>A (p.Glu92Lys)
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) rs121434224
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.292G>C (p.Asp98His) rs1571983348
NM_006147.4(IRF6):c.294T>C (p.Asp98=)
NM_006147.4(IRF6):c.2T>A (p.Met1Lys)
NM_006147.4(IRF6):c.301A>G (p.Lys101Glu)
NM_006147.4(IRF6):c.321_322del (p.Val108fs) rs2102542809
NM_006147.4(IRF6):c.327G>C (p.Lys109Asn) rs2102542804
NM_006147.4(IRF6):c.329T>C (p.Ile110Thr)
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.390G>A (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.390G>T (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg) rs1558042905
NM_006147.4(IRF6):c.430G>T (p.Glu144Ter)
NM_006147.4(IRF6):c.439del (p.Glu147fs) rs2102541666
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter) rs1057520738
NM_006147.4(IRF6):c.458C>T (p.Ser153Leu)
NM_006147.4(IRF6):c.478C>T (p.Gln160Ter) rs1322638469
NM_006147.4(IRF6):c.492del (p.Phe165fs)
NM_006147.4(IRF6):c.508+15T>G
NM_006147.4(IRF6):c.522G>A (p.Ala174=)
NM_006147.4(IRF6):c.52G>A (p.Val18Met) rs2077940645
NM_006147.4(IRF6):c.558C>A (p.Cys186Ter) rs2077874511
NM_006147.4(IRF6):c.561C>A (p.Ser187Arg)
NM_006147.4(IRF6):c.565G>A (p.Glu189Lys) rs1558039763
NM_006147.4(IRF6):c.56_62del (p.Asp19fs)
NM_006147.4(IRF6):c.575G>A (p.Trp192Ter) rs1399955256
NM_006147.4(IRF6):c.622C>T (p.Gln208Ter) rs2077873846
NM_006147.4(IRF6):c.647_650dup (p.Trp217fs) rs2102538567
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.748C>T (p.Arg250Ter) rs2077864704
NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) rs1553247774
NM_006147.4(IRF6):c.754T>G (p.Phe252Val) rs2077864661
NM_006147.4(IRF6):c.760G>A (p.Gly254Arg)
NM_006147.4(IRF6):c.777G>A (p.Met259Ile)
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.889G>A (p.Val297Ile) rs779827384
NM_006147.4(IRF6):c.902del (p.Gly301fs) rs2102536939
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006147.4(IRF6):c.928G>C (p.Ala310Pro)
NM_006147.4(IRF6):c.932T>C (p.Ile311Thr) rs2077863646
NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) rs1571979607
NM_006147.4(IRF6):c.961G>A (p.Val321Met) rs2102536882
NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn) rs1553247754
NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) rs2077863259

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