List of variants in gene TRPV4 reported as pathogenic for Spondylometaphyseal dysplasia, Kozlowski type

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	rs77975504
NM_021625.5(TRPV4):c.2146G>T (p.Ala716Ser)	rs121912635
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)	rs267607149
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	rs121912637
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)	rs267607148
NM_021625.5(TRPV4):c.998A>G (p.Asp333Gly)	rs121912634

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.