List of variants in gene JPH2 studied for Cardiomyopathy, dilated, 2E

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.156C>T (p.Tyr52=)	rs1883790	0.86681
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)	rs3810510	0.20153
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)	rs199896820	0.00003
NM_020433.5(JPH2):c.1039G>A (p.Val347Ile)	rs2515744263
NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)	rs2145838034
NM_020433.5(JPH2):c.2066T>A (p.Ile689Asn)	rs2515716926
NM_020433.5(JPH2):c.2070_2071del (p.Phe691fs)	rs2515716919
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
NM_020433.5(JPH2):c.35G>A (p.Gly12Glu)	rs2515765003
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)	rs1258920337

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.