ClinVar Miner

List of variants studied for van der Woude syndrome 1 by Autoinflammatory diseases unit, CHU de Montpellier

Included ClinVar conditions (5):

Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to; Van der Woude syndrome 1; Autosomal dominant popliteal pterygium syndrome
Van der Woude syndrome
Van der Woude syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006147.4(IRF6):c.158A>G (p.Glu53Gly)	rs2077939867
NM_006147.4(IRF6):c.251G>A (p.Arg84His)	rs121434227
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter)	rs121434224

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