ClinVar Miner

List of variants studied for Severe congenital neutropenia 4, autosomal recessive by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_001319945.2(G6PC3):c.210del (p.Phe71fs) rs769441127
NM_138387.3(G6PC3):c.1006A>C (p.Ser336Arg)
NM_138387.3(G6PC3):c.10A>G (p.Thr4Ala)
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.416+5A>G rs73306693
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.565C>T (p.Arg189Ter)
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.647C>T (p.Thr216Ile) rs34406052
NM_138387.3(G6PC3):c.674C>G (p.Ser225Cys)
NM_138387.3(G6PC3):c.709C>T (p.Arg237Trp)
NM_138387.3(G6PC3):c.727G>A (p.Val243Met) rs140785361
NM_138387.3(G6PC3):c.800C>G (p.Ser267Cys)
NM_138387.3(G6PC3):c.815A>G (p.Gln272Arg) rs34491309
NM_138387.3(G6PC3):c.821G>A (p.Arg274His)
NM_138387.3(G6PC3):c.879G>A (p.Leu293=) rs780718603
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.