ClinVar Miner

List of variants reported as benign for autosomal recessive severe congenital neutropenia by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_006118.3(HAX1):c.207A>T (p.Pro69=) rs142150013
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419
NM_007259.5(VPS45):c.126G>A (p.Ser42=) rs148944527
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370
NM_007259.5(VPS45):c.290-10T>C rs192850081
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr) rs61746084
NM_032492.4(JAGN1):c.498C>T (p.Ser166=) rs61738795
NM_138387.3(G6PC3):c.416+5A>G rs73306693
NM_138387.3(G6PC3):c.647C>T (p.Thr216Ile) rs34406052
NM_138387.3(G6PC3):c.815A>G (p.Gln272Arg) rs34491309
NM_156039.3(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974
NM_156039.3(CSF3R):c.105C>A (p.Ile35=) rs3917954
NM_156039.3(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019
NM_156039.3(CSF3R):c.1410G>A (p.Ala470=) rs3917988
NM_156039.3(CSF3R):c.1458G>A (p.Thr486=) rs138289951
NM_156039.3(CSF3R):c.1528G>C (p.Asp510His) rs3917991
NM_156039.3(CSF3R):c.1684T>C (p.Tyr562His) rs3917996
NM_156039.3(CSF3R):c.1689C>A (p.Thr563=) rs113047241
NM_156039.3(CSF3R):c.1794C>T (p.Ile598=) rs3917998
NM_156039.3(CSF3R):c.2278C>A (p.Pro760Thr) rs78861150
NM_156039.3(CSF3R):c.2503G>A (p.Glu835Lys) rs146617729
NM_156039.3(CSF3R):c.2577G>A (p.Ala859=) rs150501885
NM_156039.3(CSF3R):c.447G>C (p.Glu149Asp) rs139332126
NM_156039.3(CSF3R):c.692T>C (p.Met231Thr) rs3917973
NM_156039.3(CSF3R):c.726C>T (p.Ala242=) rs3918017
NM_156039.3(CSF3R):c.958G>A (p.Asp320Asn) rs3918018

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.