ClinVar Miner

List of variants reported as pathogenic 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: 44
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_209961765)_(209965792_?)del
NC_000001.10:g.(?_209974565)_(209974778_?)del
NC_000001.10:g.(?_209974565)_(209979435_?)del
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.1061-1G>T
NM_006147.4(IRF6):c.1089del (p.Ile363fs)
NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs) rs2077940243
NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser) rs2077857559
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.1314_1324del (p.Gln438fs) rs1558038218
NM_006147.4(IRF6):c.133del (p.Arg45fs) rs1571986293
NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) rs397515434
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.226C>T (p.Pro76Ser) rs886039388
NM_006147.4(IRF6):c.235T>C (p.Trp79Arg)
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.263A>G (p.Asn88Ser) rs2102542868
NM_006147.4(IRF6):c.274G>A (p.Glu92Lys)
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) rs121434224
NM_006147.4(IRF6):c.2T>A (p.Met1Lys)
NM_006147.4(IRF6):c.321_322del (p.Val108fs) rs2102542809
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.478C>T (p.Gln160Ter) rs1322638469
NM_006147.4(IRF6):c.492del (p.Phe165fs)
NM_006147.4(IRF6):c.558C>A (p.Cys186Ter) rs2077874511
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.748C>T (p.Arg250Ter) rs2077864704
NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) rs1553247774
NM_006147.4(IRF6):c.902del (p.Gly301fs) rs2102536939
NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) rs2077863259

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