List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by Institute of Human Genetics, Heidelberg University

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)	rs397517012	0.00001
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)	rs794729107
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)	rs727504432
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)	rs774663443
NM_001267550.2(TTN):c.104753T>G (p.Leu34918Ter)

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.