List of variants in gene KIF1B studied for Charcot-Marie-Tooth disease

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: 124

Download table as spreadsheet

HGVS	dbSNP
NM_001365951.3(KIF1B):c.107-11T>G	rs0
NM_001365951.3(KIF1B):c.107-13T>C	rs0
NM_001365951.3(KIF1B):c.1180+13A>G	rs0
NM_001365951.3(KIF1B):c.1180+19G>A	rs0
NM_001365951.3(KIF1B):c.1222+16_1222+17del	rs0
NM_001365951.3(KIF1B):c.1223-28C>T	rs0
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)	rs0
NM_001365951.3(KIF1B):c.1435-9C>T	rs0
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)	rs0
NM_001365951.3(KIF1B):c.1671-4T>C	rs0
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)	rs0
NM_001365951.3(KIF1B):c.1777+10C>T	rs3753037
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)	rs0
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)	rs0
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)	rs0
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)	rs0
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu)	rs0
NM_001365951.3(KIF1B):c.2043-4C>T	rs0
NM_001365951.3(KIF1B):c.2043-9del	rs0
NM_001365951.3(KIF1B):c.2115+6205C>G	rs771399291
NM_001365951.3(KIF1B):c.2115+6385G>A	rs1569773823
NM_001365951.3(KIF1B):c.2115+6425T>C	rs778186347
NM_001365951.3(KIF1B):c.2115+6548G>A	rs781257253
NM_001365951.3(KIF1B):c.2115+7103A>G	rs756513840
NM_001365951.3(KIF1B):c.2115+7308A>C	rs772349989
NM_001365951.3(KIF1B):c.2358+9C>T	rs0
NM_001365951.3(KIF1B):c.252C>T (p.His84=)	rs0
NM_001365951.3(KIF1B):c.2537+15A>G	rs0
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=)	rs200858074
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)	rs0
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)	rs12402052
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)	rs749154726
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His)	rs145494902
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)	rs0
NM_001365951.3(KIF1B):c.3259+3A>C	rs0
NM_001365951.3(KIF1B):c.3422+18T>C	rs0
NM_001365951.3(KIF1B):c.3688+7_3688+8dup	rs0
NM_001365951.3(KIF1B):c.3798-15G>A	rs0
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)	rs0
NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser)	rs1569614217
NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr)	rs766990936
NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile)	rs1569897794
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)	rs0
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)	rs0
NM_001365951.3(KIF1B):c.4305-17T>A	rs0
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)	rs0
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys)	rs754226097
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=)	rs373636782
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs)	rs377576958
NM_001365951.3(KIF1B):c.4753-20C>A	rs0
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)	rs0
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)	rs0
NM_001365951.3(KIF1B):c.4946+10C>T	rs0
NM_001365951.3(KIF1B):c.4947-13C>G	rs0
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)	rs0
NM_001365951.3(KIF1B):c.5097-11G>T	rs0
NM_001365951.3(KIF1B):c.5097-9C>T	rs376873833
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)	rs0
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)	rs0
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)	rs11121552
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)	rs0
NM_001365951.3(KIF1B):c.5409-16C>T	rs0
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro)	rs1569935737
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)	rs0
NM_001365951.3(KIF1B):c.608+14T>G	rs0
NM_001365951.3(KIF1B):c.609-10G>A	rs0
NM_001365951.3(KIF1B):c.654C>T (p.His218=)	rs0
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)	rs762280202
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)	rs0
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)	rs772548887
NM_001365951.3(KIF1B):c.959-16T>A	rs0
NM_015074.3(KIF1B):c.*2T>C	rs148690591
NM_015074.3(KIF1B):c.1162+18C>T	rs41274456
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=)	rs17034660
NM_015074.3(KIF1B):c.1419T>C (p.Asp473=)	rs146364486
NM_015074.3(KIF1B):c.1456C>G (p.Pro486Ala)	rs201500946
NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr)	rs143654307
NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg)	rs145266399
NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile)	rs142881321
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.1905-10_1905-9del	rs58344165
NM_015074.3(KIF1B):c.1977+6213G>T	rs587777883
NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile)	rs41274468
NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg)	rs551543997
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser)	rs117525287
NM_015074.3(KIF1B):c.2413T>A (p.Leu805Met)	rs139572764
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=)	rs145846362
NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile)	rs121908162
NM_015074.3(KIF1B):c.2689G>A (p.Ala897Thr)	rs142567076
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=)	rs150831576
NM_015074.3(KIF1B):c.2832C>A (p.Ile944=)	rs78611156
NM_015074.3(KIF1B):c.2847C>T (p.Ile949=)	rs150904940
NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr)	rs200614254
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu)	rs121908160
NM_015074.3(KIF1B):c.3002C>T (p.Ser1001Leu)	rs0
NM_015074.3(KIF1B):c.3121+9A>G	rs149566646
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys)	rs2297881
NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr)	rs374098797
NM_015074.3(KIF1B):c.3285-15A>T	rs200470260
NM_015074.3(KIF1B):c.3285-15del	rs3215996
NM_015074.3(KIF1B):c.3497C>T (p.Pro1166Leu)	rs141224290
NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=)	rs140229905
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=)	rs147318592
NM_015074.3(KIF1B):c.363+6A>C	rs114084418
NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg)	rs749610931
NM_015074.3(KIF1B):c.3726+6A>C	rs114266141
NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val)	rs529804940
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.4073T>C (p.Val1358Ala)	rs200561798
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.4530C>T (p.Ser1510=)	rs765541693
NM_015074.3(KIF1B):c.4615-9C>T	rs375366137
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met)	rs77172218
NM_015074.3(KIF1B):c.4808+9C>T	rs72867431
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys)	rs143669846
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
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg)	rs373698346

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.