List of variants reported as likely pathogenic for HSD10 disease, atypical type

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu)	rs2075834227
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)	rs1064794694
NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg)	rs1602426573
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr)	rs886037927
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln)	rs1556894502
NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)
NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met)	rs2075824424
NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly)	rs1348504554

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.