ClinVar Miner

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

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Total variants: 124
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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

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