List of variants in gene combination DDX53, PTCHD1 reported as uncertain significance 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 Xp22.11(chrX:22463390-23406620)x2
GRCh37/hg19 Xp22.11(chrX:22946630-23481118)x3
NM_182699.4(DDX53):c.1078C>T (p.Gln360Ter)
NM_182699.4(DDX53):c.148C>T (p.Pro50Ser)
NM_182699.4(DDX53):c.1523G>A (p.Arg508Gln)
NM_182699.4(DDX53):c.1702G>T (p.Val568Phe)
NM_182699.4(DDX53):c.1736C>T (p.Ala579Val)
NM_182699.4(DDX53):c.1861G>A (p.Gly621Arg)
NM_182699.4(DDX53):c.244A>C (p.Ile82Leu)
NM_182699.4(DDX53):c.259G>T (p.Gly87Trp)	rs1933787800
NM_182699.4(DDX53):c.488G>A (p.Cys163Tyr)	rs1064795781
NM_182699.4(DDX53):c.594G>C (p.Lys198Asn)
NM_182699.4(DDX53):c.758G>A (p.Trp253Ter)
NM_182699.4(DDX53):c.76G>A (p.Gly26Ser)
NM_182699.4(DDX53):c.781G>A (p.Asp261Asn)
NM_182699.4(DDX53):c.995G>A (p.Gly332Asp)

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.