ClinVar Miner

List of variants studied for orofaciodigital syndrome V by OMIM

Included ClinVar conditions (1):

Orofaciodigital syndrome V

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001031725.6(DDX59):c.1859G>T (p.Ter620Leu)	rs769198531	0.00001
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)	rs587777067
NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg)	rs886037652
NM_001031725.6(DDX59):c.185del (p.Phe62fs)	rs773114666

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