List of variants reported as benign for autosomal dominant popliteal pterygium syndrome

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020639.3(RIPK4):c.782_783dup	rs34075882	0.40146
NM_006147.4(IRF6):c.459G>T (p.Ser153=)	rs2013162	0.35925
NM_006147.4(IRF6):c.175-5C>G	rs7552506	0.32118
NM_006147.4(IRF6):c.-75-4A>G	rs2235377	0.03786
NM_006147.4(IRF6):c.820G>A (p.Val274Ile)	rs2235371	0.03768
NM_006147.4(IRF6):c.1153T>C (p.Leu385=)	rs61099902	0.02121
NM_006147.4(IRF6):c.759T>C (p.Tyr253=)	rs41303263	0.00237
NM_006147.4(IRF6):c.9C>T (p.Leu3=)	rs78599614	0.00009
NM_006147.4(IRF6):c.351T>G (p.Pro117=)	rs550521875	0.00003
NM_006147.3(IRF6):c.-313T>A	rs34743335
NM_006147.4(IRF6):c.390G>A (p.Gly130=)	rs34907424
NM_006147.4(IRF6):c.390G>T (p.Gly130=)	rs34907424
NM_006147.4(IRF6):c.667+27C>G	rs2235375

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.