List of variants in gene HTRA1 reported as uncertain significance by Athena Diagnostics Inc

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala)	rs530087850	0.00031
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg)	rs541204010	0.00021
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr)	rs371279115	0.00013
NM_002775.5(HTRA1):c.616G>A (p.Gly206Arg)	rs1369379388	0.00003
NM_002775.5(HTRA1):c.1048G>A (p.Gly350Arg)	rs2133450808
NM_002775.5(HTRA1):c.20C>G (p.Ala7Gly)
NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup)	rs746547640
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)	rs781563777
NM_002775.5(HTRA1):c.523G>A (p.Val175Met)	rs768665565
NM_002775.5(HTRA1):c.529_531del (p.Glu177del)	rs2097494420
NM_002775.5(HTRA1):c.884G>A (p.Gly295Glu)	rs769481765
NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn)
NM_002775.5(HTRA1):c.940A>G (p.Met314Val)

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.