ClinVar Miner

List of variants studied for van der Woude syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_006147.4(IRF6):c.*1893C>T rs680331 0.81024
NM_006147.4(IRF6):c.-73T>C rs861019 0.43899
NM_006147.4(IRF6):c.*843T>G rs599021 0.36277
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.*742A>T rs742215 0.22621
NM_006147.4(IRF6):c.*2151C>A rs1044516 0.22319
NM_006147.4(IRF6):c.*1329C>T rs2235372 0.22102
NM_006147.4(IRF6):c.*840A>G rs742214 0.21988
NM_006147.3(IRF6):c.-302A>T rs12403006 0.15850
NM_006147.4(IRF6):c.*451A>G rs17317411 0.10461
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.*558C>T rs73091663 0.01939
NM_006147.4(IRF6):c.*1246C>G rs58161850 0.01673
NM_006147.4(IRF6):c.*204C>T rs77906982 0.01225
NM_006147.4(IRF6):c.*1511C>T rs114756064 0.01213
NM_006147.4(IRF6):c.*2394dup rs144945364 0.00999
NM_006147.4(IRF6):c.*1265G>C rs149425923 0.00992
NM_006147.4(IRF6):c.*353T>C rs79863693 0.00962
NM_006147.4(IRF6):c.*2414G>A rs112896538 0.00703
NM_006147.4(IRF6):c.*479T>G rs75012801 0.00677
NM_006147.4(IRF6):c.*411C>T rs187379424 0.00492
NM_006147.4(IRF6):c.*665C>A rs4844899 0.00364
NM_006147.4(IRF6):c.*2122T>C rs567043500 0.00274
NM_006147.4(IRF6):c.*965G>A rs144692145 0.00261
NM_006147.4(IRF6):c.759T>C (p.Tyr253=) rs41303263 0.00237
NM_006147.4(IRF6):c.*2472G>A rs188593210 0.00213
NM_006147.4(IRF6):c.*279T>C rs191645857 0.00138
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.-44G>A rs2235376 0.00028
NM_006147.4(IRF6):c.*591T>G rs576516344 0.00021
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.711C>T (p.Tyr237=) rs201940391 0.00009
NM_006147.4(IRF6):c.9C>T (p.Leu3=) rs78599614 0.00009
NM_006147.4(IRF6):c.*1473C>G rs531092939 0.00008
NM_006147.4(IRF6):c.*1771A>G rs201184204 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.*342A>C rs146078290 0.00005
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.994G>A (p.Val332Ile) rs139649287 0.00001
NM_006147.3(IRF6):c.-313T>A rs34743335
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.*1678del rs141112353
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.*2597G>A rs1856161
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.1065C>T (p.Leu355=) rs1317826948
NM_006147.4(IRF6):c.1388C>T (p.Ala463Val) rs886045883
NM_006147.4(IRF6):c.390G>T (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.598A>G (p.Met200Val) rs886045884

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