ClinVar Miner

List of variants studied for PCWH syndrome by Baylor Genetics

Included ClinVar conditions (2):

PCWH syndrome
PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome type 4C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser)	rs1397403248
NM_006941.4(SOX10):c.181G>A (p.Gly61Ser)	rs866240813
NM_006941.4(SOX10):c.671C>A (p.Ser224Ter)

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.