Variants in gene HCN4 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)	rs560874115	0.00149
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)	rs148453034	0.00116
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)	rs373411041	0.00056
NM_005477.3(HCN4):c.2181C>T (p.His727=)	rs140354126	0.00036
NM_005477.3(HCN4):c.621C>G (p.Arg207=)	rs727503958	0.00012
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)	rs749785521	0.00011
NM_005477.3(HCN4):c.1243G>A (p.Val415Met)	rs201978086	0.00007
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)	rs202037304	0.00001
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)	rs886042819	0.00001

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.