ClinVar Miner

List of variants reported as pathogenic for IRF6-related condition by OMIM

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001278.5(CHUK):c.934-2A>G rs2134229666
NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile) rs121434231
NM_006147.4(IRF6):c.1137G>A (p.Trp379Ter) rs121434228
NM_006147.4(IRF6):c.1177C>T (p.Gln393Ter) rs121434225
NM_006147.4(IRF6):c.1186C>T (p.Pro396Ser) rs121434230
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) rs28942095
NM_006147.4(IRF6):c.1199G>A (p.Arg400Gln) rs200166664
NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu) rs387906968
NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro) rs886038202
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) rs397515434
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
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.251G>T (p.Arg84Leu) rs121434227
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) rs121434224
NM_006147.4(IRF6):c.5C>T (p.Ala2Val) rs28942093
NM_006147.4(IRF6):c.65T>C (p.Leu22Pro) rs387906967
NM_006147.4(IRF6):c.870_888delinsA (p.Phe290_Asp296delinsLeu) rs587776569
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) rs1569100177
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter) rs387906921
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn) rs387906922
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn) rs387906923
NM_020639.3(RIPK4):c.777dup (p.Arg260fs)
NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys) rs879255245
NM_198173.3(GRHL3):c.1419+1G>T rs879255244
NM_198173.3(GRHL3):c.1563_1566del (p.Glu522fs) rs879255243
NM_198173.3(GRHL3):c.893G>A (p.Arg298His) rs752673677
NM_198173.3(GRHL3):c.970_971insGT (p.Phe324fs) rs879255573
nsv1067914

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