List of variants in gene combination HSF4, LOC125177334 reported as uncertain significance for cataract 5 multiple types

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001538.4(HSF4):c.-186C>T	rs772601480	0.00221
NM_001538.4(HSF4):c.-191C>G	rs769427775	0.00220
NM_001538.4(HSF4):c.-244A>C	rs754262946	0.00091
NM_001538.4(HSF4):c.-211A>G	rs369313270	0.00078
NM_001538.4(HSF4):c.-198C>T	rs893014096	0.00009
NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly)	rs753084587	0.00001
NM_001374675.1(HSF4):c.32A>G (p.Glu11Gly)	rs886052215
NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)
NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)

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.