ClinVar Miner

List of variants reported as uncertain significance for X-linked severe congenital neutropenia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000377.2(WAS):c.1060_1062delCCA rs1569494034
NM_000377.2(WAS):c.1196C>G (p.Pro399Arg)
NM_000377.2(WAS):c.1208C>T (p.Pro403Leu) rs782666797
NM_000377.2(WAS):c.266G>A (p.Gly89Asp)
NM_000377.2(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.2(WAS):c.459T>G (p.Ser153Arg)
NM_000377.2(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.2(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.2(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.2(WAS):c.679C>T (p.Arg227Cys)
NM_000377.2(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.2(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.2(WAS):c.985C>G (p.Pro329Ala) rs1557007136
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)

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.