ClinVar Miner

List of variants in gene KIF1B, LOC126805614 studied for Charcot-Marie-Tooth disease type 2A1

Included ClinVar conditions (5):

Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma; Pheochromocytoma
Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn)	rs370647925	0.00004
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)	rs755314640	0.00001
NM_001365951.3(KIF1B):c.2839G>A (p.Ala947Thr)

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.