List of variants in gene G6PC3 reported as pathogenic for autosomal recessive severe congenital neutropenia

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP
G6PC3, 1-BP DUP, 935T
NM_138387.3(G6PC3):c.130C>T (p.Pro44Ser)	rs775224457
NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter)	rs118203970
NM_138387.3(G6PC3):c.210del (p.Phe71fs)	rs769441127
NM_138387.3(G6PC3):c.346A>G (p.Met116Val)	rs267606834
NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro)	rs118203969
NM_138387.3(G6PC3):c.565C>T (p.Arg189Ter)
NM_138387.3(G6PC3):c.758G>A (p.Arg253His)	rs118203968
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg)	rs200478425
NM_138387.3(G6PC3):c.784G>C (p.Gly262Arg)	rs118203971
NM_138387.3(G6PC3):c.829C>T (p.Gln277Ter)	rs148559256
NM_138387.3(G6PC3):c.935dup (p.Asn313fs)	rs797044567

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.