List of variants reported as likely pathogenic for leukopenia by Natera, Inc.

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_006118.4(HAX1):c.317-2A>G	rs371504152	0.00009
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	rs193302883	0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)	rs747217399	0.00001
NM_152564.5(VPS13B):c.2824+2T>C	rs141703746	0.00001
NM_152564.5(VPS13B):c.3083-2A>C	rs1456528242	0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)	rs386834086	0.00001
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)	rs1588811810
NM_152564.5(VPS13B):c.2824+2T>G	rs141703746
NM_152564.5(VPS13B):c.292-2A>G	rs386834079
NM_152564.5(VPS13B):c.3083-1G>A	rs1563726973
NM_152564.5(VPS13B):c.3870+1G>T	rs764225649
NM_152564.5(VPS13B):c.8995-2A>G	rs1554569259
NM_152564.5(VPS13B):c.9742+2T>C	rs1434569440

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.