ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_138387.3(G6PC3):c.1006A>C (p.Ser336Arg)
NM_138387.3(G6PC3):c.10A>G (p.Thr4Ala)
NM_138387.3(G6PC3):c.201C>T (p.Leu67=) rs375273894
NM_138387.3(G6PC3):c.31A>G (p.Ile11Val)
NM_138387.3(G6PC3):c.376A>G (p.Met126Val)
NM_138387.3(G6PC3):c.406C>T (p.Arg136Trp) rs138557340
NM_138387.3(G6PC3):c.407G>A (p.Arg136Gln) rs200050824
NM_138387.3(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.3(G6PC3):c.479C>T (p.Ser160Leu)
NM_138387.3(G6PC3):c.50A>C (p.Asn17Thr)
NM_138387.3(G6PC3):c.566G>A (p.Arg189Gln) rs140294222
NM_138387.3(G6PC3):c.574A>G (p.Met192Val)
NM_138387.3(G6PC3):c.580C>T (p.Arg194Trp)
NM_138387.3(G6PC3):c.674C>G (p.Ser225Cys)
NM_138387.3(G6PC3):c.677+7C>T rs1045392209
NM_138387.3(G6PC3):c.709C>T (p.Arg237Trp)
NM_138387.3(G6PC3):c.727G>A (p.Val243Met) rs140785361
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) rs200478425
NM_138387.3(G6PC3):c.800C>G (p.Ser267Cys)
NM_138387.3(G6PC3):c.821G>A (p.Arg274His)
NM_138387.3(G6PC3):c.883G>T (p.Gly295Cys)
NM_138387.3(G6PC3):c.938A>G (p.Asn313Ser)
NM_138387.3(G6PC3):c.982G>A (p.Val328Met)

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.