ClinVar Miner

List of variants reported as pathogenic for Van der Woude syndrome 2 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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

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