List of variants reported as pathogenic for hereditary epidermal appendage anomaly by Revvity Omics, Revvity

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs)	rs2137277484
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter)	rs1555491350
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)	rs730880517
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)	rs1299632365
NM_138701.4(MPLKIP):c.229del (p.Arg77fs)	rs2150561563

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.