ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000377.2(WAS):c.-37_132+35del
NM_000377.2(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.2(WAS):c.223G>A (p.Val75Met) rs782290433
NM_000377.2(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.2(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.2(WAS):c.355G>T (p.Gly119Ter)
NM_000377.2(WAS):c.470_471del (p.Arg157fs)
NM_000377.2(WAS):c.631C>T (p.Arg211Ter)
NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)
NM_000377.2(WAS):c.734+2T>A rs1569493877
NM_000377.2(WAS):c.777+1G>A rs1057517845
NM_000377.2(WAS):c.803delinsTT (p.Arg268fs)
NM_000377.2(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.2(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.2(WAS):c.858del (p.Ser287fs)
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.2(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.2(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_001972.4(ELANE):c.598-1G>A rs201117839

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.