List of variants in gene HHAT studied for chondrodysplasia-pseudohermaphroditism syndrome

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018194.6(HHAT):c.997G>A (p.Gly333Arg)	rs61744143	0.00834
NM_018194.6(HHAT):c.860G>T (p.Gly287Val)	rs1173716957	0.00001
NM_018194.6(HHAT):c.362CCA[1] (p.Thr122del)	rs2148196864
NM_018194.6(HHAT):c.770T>C (p.Leu257Pro)	rs2092784129

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.