ClinVar Miner

List of variants reported as benign for van der Woude syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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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.*1265G>C rs149425923 0.00992
NM_006147.4(IRF6):c.*353T>C rs79863693 0.00962
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_006147.4(IRF6):c.-44G>A rs2235376 0.00028
NM_006147.4(IRF6):c.9C>T (p.Leu3=) rs78599614 0.00009
NM_006147.4(IRF6):c.*1771A>G rs201184204 0.00008
NM_006147.4(IRF6):c.*342A>C rs146078290 0.00005
NM_006147.4(IRF6):c.351T>G (p.Pro117=) rs550521875 0.00003
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.*1678del rs141112353
NM_006147.4(IRF6):c.*2597G>A rs1856161
NM_006147.4(IRF6):c.390G>A (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.390G>T (p.Gly130=) rs34907424

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