ClinVar Miner

List of variants in gene KIF1B reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001365951.3(KIF1B):c.2115+6625G>A rs145248590 0.00129
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00046
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=) rs543345616 0.00006
NM_001365951.3(KIF1B):c.2115+6A>T rs149407490 0.00006
NM_001365951.3(KIF1B):c.2115+6805C>G rs377168351 0.00003
NM_001365951.3(KIF1B):c.3925A>G (p.Lys1309Glu) rs772177176 0.00002
NM_001365951.3(KIF1B):c.5063A>G (p.Asn1688Ser) rs866721796 0.00001
NM_001365951.3(KIF1B):c.2043-10_2043-9del rs58344165
NM_001365951.3(KIF1B):c.2043-9dup rs58344165
NM_001365951.3(KIF1B):c.2115+7154C>G rs866635609
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001365951.3(KIF1B):c.430-9del rs771477893

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.