ClinVar Miner

List of variants in gene MAFB studied for cranial nerve neuropathy

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005461.5(MAFB):c.542A>T (p.Gln181Leu) rs776350709 0.00019
NM_005461.5(MAFB):c.577C>T (p.His193Tyr) rs771536349 0.00015
NM_005461.5(MAFB):c.393C>A (p.His131Gln) rs121912307 0.00004
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) rs374174345 0.00003
NM_005461.5(MAFB):c.617G>A (p.Ser206Asn) rs909242045 0.00002
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) rs1290466873 0.00001
NM_005461.5(MAFB):c.457G>C (p.Asp153His) rs893483748 0.00001
NM_005461.4(MAFB):c.(?_391)_*(390_?)del
NM_005461.5(MAFB):c.440del (p.Gly147fs) rs879255276
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) rs750186410
NM_005461.5(MAFB):c.644del (p.Gln215fs) rs879255277
NM_005461.5(MAFB):c.803del (p.Asn268fs) rs879255275
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)

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.