List of variants reported as uncertain significance for Orofacial cleft 10

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003352.8(SUMO1):c.*776A>T	rs72923015	0.00156
NM_003352.8(SUMO1):c.*884A>G	rs555380378	0.00070
NM_003352.8(SUMO1):c.*944G>C	rs537401465	0.00028
NM_003352.8(SUMO1):c.*475A>G	rs754482827	0.00020
NM_003352.8(SUMO1):c.-83A>G	rs535659845	0.00004
NM_003352.8(SUMO1):c.88-8C>T	rs778978037	0.00004
NM_003352.8(SUMO1):c.*545G>T	rs747664973	0.00003
NM_003352.8(SUMO1):c.*724A>G	rs886055457	0.00001
NM_003352.8(SUMO1):c.*814G>A	rs753364030	0.00001
NM_003352.8(SUMO1):c.*1038C>T	rs1692651255
NM_003352.8(SUMO1):c.*753C>G	rs1035640561
NM_003352.8(SUMO1):c.-48C>T	rs976294034
NM_006147.4(IRF6):c.1175T>G (p.Val392Gly)	rs1553247688
NM_006147.4(IRF6):c.595G>A (p.Glu199Lys)	rs1553247888

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.