ClinVar Miner

List of variants reported as uncertain significance for lymphoid system disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_000081.4(LYST):c.11038+11T>C
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser) rs1727627190
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly) rs746510253
NM_004523.4(KIF11):c.1217+14_1217+283del rs1844616530
NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) rs1762428823
NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) rs1189576922

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.