ClinVar Miner

List of variants reported as pathogenic for leukopenia by Genomics Facility, Ludwig-Maximilians-Universität München

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_015122.3(FCHO1):c.489+1G>A rs2091196149 0.00001
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_001972.4(ELANE):c.452G>C (p.Cys151Ser) rs57246956
NM_001972.4(ELANE):c.574_583del (p.Gly192fs) rs2145148969
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) rs201139487
NM_003135.3(SRP19):c.189+5G>A rs1322282571
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu) rs1950780024
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs) rs2149139969
NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro) rs2086875746
NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter) rs1336566500
NM_015122.3(FCHO1):c.195-2A>C rs2089298923
NM_015122.3(FCHO1):c.2023dup (p.Val675fs) rs2093571190
NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro) rs530286781
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs) rs1833108141
NM_183235.3(RAB27A):c.137T>G (p.Phe46Cys) rs1896185846
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076

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.