List of variants in gene IRF6 reported as likely pathogenic for autosomal dominant popliteal pterygium syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006147.4(IRF6):c.1060+1G>A	rs781506407
NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr)	rs2077857680
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)	rs121434229
NM_006147.4(IRF6):c.169T>C (p.Phe57Leu)	rs2077939791
NM_006147.4(IRF6):c.175G>T (p.Ala59Ser)
NM_006147.4(IRF6):c.176C>T (p.Ala59Val)	rs1571983440
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu)	rs1553248271
NM_006147.4(IRF6):c.269G>C (p.Ser90Thr)	rs2102542857
NM_006147.4(IRF6):c.292G>C (p.Asp98His)	rs1571983348
NM_006147.4(IRF6):c.329T>C (p.Ile110Thr)
NM_006147.4(IRF6):c.760G>A (p.Gly254Arg)
NM_006147.4(IRF6):c.827T>C (p.Phe276Ser)
NM_006147.4(IRF6):c.889G>A (p.Val297Ile)	rs779827384
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro)	rs1064793154
NM_006147.4(IRF6):c.928G>C (p.Ala310Pro)
NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr)	rs1571979607
NM_006147.4(IRF6):c.961G>A (p.Val321Met)	rs2102536882

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