ClinVar Miner

List of variants in gene KIF1B reported as benign for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_001365951.3(KIF1B):c.1222+16_1222+17del rs0
NM_001365951.3(KIF1B):c.1223-28C>T rs0
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu) rs0
NM_001365951.3(KIF1B):c.2043-9del rs0
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_001365951.3(KIF1B):c.4753-20C>A rs0
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552
NM_015074.3(KIF1B):c.1162+18C>T rs41274456
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.184-6_184-5del rs138324955
NM_015074.3(KIF1B):c.186C>T (p.Pro62=) rs141998703
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2832C>A (p.Ile944=) rs78611156
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3285-15A>T rs200470260
NM_015074.3(KIF1B):c.3285-15del rs3215996
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4020G>A (p.Ser1340=) rs116302604
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+8dup rs139613776
NM_015074.3(KIF1B):c.720+17C>T rs1339458

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.