List of variants in gene TRPS1 reported as likely pathogenic for not provided

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014112.5(TRPS1):c.1561A>T (p.Lys521Ter)	rs754111466
NM_014112.5(TRPS1):c.2374A>T (p.Lys792Ter)	rs2130444978
NM_014112.5(TRPS1):c.2755C>G (p.Leu919Val)	rs1586254022
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)	rs1554617573
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)	rs28939070
NM_014112.5(TRPS1):c.3178G>T (p.Gly1060Ter)	rs771834548
NM_014112.5(TRPS1):c.3784C>T (p.Gln1262Ter)	rs1064794697
NM_014112.5(TRPS1):c.787del (p.Leu263fs)	rs1554598891

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.