ClinVar Miner

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

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.1223-28C>T rs3748575 0.55154
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_001365951.3(KIF1B):c.3423-15del rs3215996 0.03458
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.1180+18C>T rs41274456 0.03074
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys) rs143669846 0.00317
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_001365951.3(KIF1B):c.*2T>C rs148690591 0.00185
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00108
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00046
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=) rs145846362 0.00031
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00024
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_001365951.3(KIF1B):c.4753-9C>T rs375366137 0.00021
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=) rs140229905 0.00019
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=) rs150904940 0.00018
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile) rs142881321 0.00017
NM_001365951.3(KIF1B):c.608+14T>G rs151026584 0.00016
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys) rs754226097 0.00014
NM_001365951.3(KIF1B):c.4946+10C>T rs374982816 0.00014
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala) rs201500946 0.00013
NM_001365951.3(KIF1B):c.1180+19G>A rs200480069 0.00012
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=) rs749154726 0.00012
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu) rs552529704 0.00012
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) rs373636782 0.00012
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307 0.00009
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001365951.3(KIF1B):c.1557T>C (p.Asp519=) rs146364486 0.00007
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) rs768672234 0.00006
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=) rs765541693 0.00006
NM_001365951.3(KIF1B):c.3423-15A>T rs200470260 0.00005
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001365951.3(KIF1B):c.3259+3A>C rs1388178227 0.00004
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile) rs769092155 0.00004
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=) rs572314710 0.00004
NM_001365951.3(KIF1B):c.2115+6213G>T rs587777883 0.00003
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr) rs200614254 0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001365951.3(KIF1B):c.252C>T (p.His84=) rs757683684 0.00002
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=) rs754332251 0.00002
NM_001365951.3(KIF1B):c.654C>T (p.His218=) rs142209186 0.00002
NM_001365951.3(KIF1B):c.1435-9C>T rs200798756 0.00001
NM_001365951.3(KIF1B):c.2115+6425T>C rs778186347 0.00001
NM_001365951.3(KIF1B):c.2115+7103A>G rs756513840 0.00001
NM_001365951.3(KIF1B):c.2537+15A>G rs757030966 0.00001
NM_001365951.3(KIF1B):c.3140C>T (p.Ser1047Leu) rs267597898 0.00001
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His) rs567728453 0.00001
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr) rs376471111 0.00001
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp) rs758454220 0.00001
NM_001365951.3(KIF1B):c.5097-11G>T rs765592840 0.00001
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val) rs866755197 0.00001
NM_001365951.3(KIF1B):c.5409-16C>T rs781661292 0.00001
NM_001365951.3(KIF1B):c.609-10G>A rs1648575016 0.00001
NM_001365951.3(KIF1B):c.107-11T>G rs1647773753
NM_001365951.3(KIF1B):c.107-13T>C rs936173191
NM_001365951.3(KIF1B):c.1180+13A>G rs150049547
NM_001365951.3(KIF1B):c.1222+16_1222+17del rs35347635
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu) rs896518063
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile) rs1650197606
NM_001365951.3(KIF1B):c.1671-4T>C rs1650224129
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=) rs756935623
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del) rs766127664
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His) rs1650299804
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) rs1332046524
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu) rs1650300630
NM_001365951.3(KIF1B):c.2043-10_2043-9del rs58344165
NM_001365951.3(KIF1B):c.2043-4C>T rs771419523
NM_001365951.3(KIF1B):c.2043-9del rs58344165
NM_001365951.3(KIF1B):c.2115+6205C>G rs771399291
NM_001365951.3(KIF1B):c.2115+6385G>A rs1569773823
NM_001365951.3(KIF1B):c.2115+6548G>A rs781257253
NM_001365951.3(KIF1B):c.2115+7308A>C rs772349989
NM_001365951.3(KIF1B):c.2358+9C>T rs1651536955
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His) rs145494902
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser) rs1652211900
NM_001365951.3(KIF1B):c.3422+18T>C rs1652225664
NM_001365951.3(KIF1B):c.3688+7_3688+8dup rs1652467199
NM_001365951.3(KIF1B):c.3798-15G>A rs766283700
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940
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.4305-17T>A rs1323362062
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val) rs868357926
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs) rs377576958
NM_001365951.3(KIF1B):c.4947-13C>G rs1638826414
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr) rs757828399
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro) rs1569935737
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) rs766873320
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe) rs775958513
NM_001365951.3(KIF1B):c.959-16T>A rs1206994711

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