List of variants reported as likely pathogenic for Skraban-Deardorff syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001379403.1(WDR26):c.1006C>G (p.Leu336Val)	rs2102919542
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)
NM_001379403.1(WDR26):c.1198C>T (p.Arg400Cys)	rs2102912929
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro)	rs2102905325
NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter)
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly)	rs1553354956
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn)	rs1553354952
NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr)	rs2102897778
NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val)	rs1572168244
NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln)	rs1673333616
NM_001379403.1(WDR26):c.1881dup (p.Pro628fs)
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)	rs1572163072
NM_001379403.1(WDR26):c.823-10A>G	rs1674395504

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.