ClinVar Miner

List of variants reported as uncertain significance for popliteal pterygium syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn) rs200808685 0.00020
NM_006147.4(IRF6):c.921C>T (p.Ser307=) rs750815592 0.00001
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.1166T>C (p.Leu389Pro)
NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)
NM_006147.4(IRF6):c.1247G>A (p.Ser416Asn)
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.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.47C>T (p.Ala16Val)
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.649T>C (p.Trp217Arg)
NM_006147.4(IRF6):c.651G>C (p.Trp217Cys)
NM_006147.4(IRF6):c.665C>T (p.Pro222Leu) rs1571980623
NM_006147.4(IRF6):c.668-23_668-20del
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

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