ClinVar Miner

List of variants reported as likely pathogenic for Van der Woude syndrome

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Total variants: 5
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HGVS dbSNP
NM_006147.4(IRF6):c.1060+1G>A rs781506407
NM_006147.4(IRF6):c.120G>T (p.Trp40Cys) rs1553248635
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu) rs1553248271
NM_006147.4(IRF6):c.659C>T (p.Ser220Phe) rs1553247877
NM_198173.3(GRHL3):c.1225C>T (p.Arg409Cys) rs770938921

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