ClinVar Miner

List of variants in gene KIF1B reported as uncertain significance for Charcot-Marie-Tooth disease, type 2

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP
NM_001365951.2(KIF1B):c.*249_*250CA[13] rs111663673
NM_001365951.2(KIF1B):c.*249_*250CA[14] rs111663673
NM_001365951.2(KIF1B):c.*249_*250CA[17] rs111663673
NM_001365951.2(KIF1B):c.*249_*250CA[18] rs111663673
NM_001365951.2(KIF1B):c.*249_*250CA[19] rs111663673
NM_001365951.2(KIF1B):c.*454_*455CT[1] rs886044993
NM_015074.3(KIF1B):c.*1049T>C rs189075267
NM_015074.3(KIF1B):c.*1104C>T rs886044995
NM_015074.3(KIF1B):c.*1117C>T rs182518399
NM_015074.3(KIF1B):c.*1134G>A rs763386544
NM_015074.3(KIF1B):c.*1363dup rs567435289
NM_015074.3(KIF1B):c.*1715G>T rs755083691
NM_015074.3(KIF1B):c.*1997T>C rs886044997
NM_015074.3(KIF1B):c.*1999G>T rs886044998
NM_015074.3(KIF1B):c.*2019C>T rs185749715
NM_015074.3(KIF1B):c.*2032T>A rs190108168
NM_015074.3(KIF1B):c.*2268C>T rs574858597
NM_015074.3(KIF1B):c.*2379T>C rs886044999
NM_015074.3(KIF1B):c.*2412A>G rs886045000
NM_015074.3(KIF1B):c.*2567G>C rs750420134
NM_015074.3(KIF1B):c.*2687G>A rs886045001
NM_015074.3(KIF1B):c.*2743G>A rs886045002
NM_015074.3(KIF1B):c.*2786G>A rs886045003
NM_015074.3(KIF1B):c.*2798C>T rs369817908
NM_015074.3(KIF1B):c.*281T>C rs201136295
NM_015074.3(KIF1B):c.*281_*282dup rs886044986
NM_015074.3(KIF1B):c.*281_*286del rs886044990
NM_015074.3(KIF1B):c.*2840G>A rs886045004
NM_015074.3(KIF1B):c.*2858G>C rs546229540
NM_015074.3(KIF1B):c.*2978dup rs145348144
NM_015074.3(KIF1B):c.*3034C>T rs886045006
NM_015074.3(KIF1B):c.*3035G>A rs41301987
NM_015074.3(KIF1B):c.*305C>T rs886044992
NM_015074.3(KIF1B):c.*3146T>C rs886045007
NM_015074.3(KIF1B):c.*3202C>A rs886045008
NM_015074.3(KIF1B):c.*3386C>T rs765149352
NM_015074.3(KIF1B):c.*3418C>T rs559140260
NM_015074.3(KIF1B):c.*3639T>C rs551392566
NM_015074.3(KIF1B):c.*3644dup rs775451005
NM_015074.3(KIF1B):c.*3697A>C rs762218807
NM_015074.3(KIF1B):c.*3716C>T rs756198031
NM_015074.3(KIF1B):c.*375A>G rs554239975
NM_015074.3(KIF1B):c.*3789C>T rs192963286
NM_015074.3(KIF1B):c.*3857G>A rs536529721
NM_015074.3(KIF1B):c.*3930C>T rs549049444
NM_015074.3(KIF1B):c.*3958A>G rs886045010
NM_015074.3(KIF1B):c.*4296T>C rs886045013
NM_015074.3(KIF1B):c.*4325G>A rs141688466
NM_015074.3(KIF1B):c.*4613G>A rs886045014
NM_015074.3(KIF1B):c.*4621C>T rs535976639
NM_015074.3(KIF1B):c.*4664_*4665insG rs571589510
NM_015074.3(KIF1B):c.*4697A>G rs886045015
NM_015074.3(KIF1B):c.*4742C>A rs775958997
NM_015074.3(KIF1B):c.*4919G>A rs886045016
NM_015074.3(KIF1B):c.*744C>A rs886044994
NM_015074.3(KIF1B):c.*839C>T rs549614550
NM_015074.3(KIF1B):c.-127G>A rs528568887
NM_015074.3(KIF1B):c.-146C>T rs867021284
NM_015074.3(KIF1B):c.-79-4A>G rs886044965
NM_015074.3(KIF1B):c.1020-5del rs886044976
NM_015074.3(KIF1B):c.107-8T>A rs749389756
NM_015074.3(KIF1B):c.1115G>A (p.Arg372Gln) rs750790168
NM_015074.3(KIF1B):c.1159G>A (p.Asp387Asn) rs377570278
NM_015074.3(KIF1B):c.1161T>C (p.Asp387=) rs1060501914
NM_015074.3(KIF1B):c.1203A>G (p.Ser401=) rs763679404
NM_015074.3(KIF1B):c.1222T>C (p.Leu408=) rs886044977
NM_015074.3(KIF1B):c.1226C>T (p.Thr409Met) rs201474903
NM_015074.3(KIF1B):c.1296+5del
NM_015074.3(KIF1B):c.1369A>G (p.Met457Val) rs1060501913
NM_015074.3(KIF1B):c.137C>T (p.Ala46Val) rs770626277
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.1474A>G (p.Asn492Asp)
NM_015074.3(KIF1B):c.1558C>T (p.Arg520Cys)
NM_015074.3(KIF1B):c.1567A>G (p.Ile523Val) rs374848403
NM_015074.3(KIF1B):c.168C>T (p.Tyr56=) rs530566864
NM_015074.3(KIF1B):c.1717C>T (p.Arg573Cys) rs752648536
NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile) rs142881321
NM_015074.3(KIF1B):c.1982A>T (p.Tyr661Phe) rs140536329
NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile) rs41274468
NM_015074.3(KIF1B):c.215G>A (p.Arg72His)
NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg) rs140015591
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) rs145846362
NM_015074.3(KIF1B):c.2471G>A (p.Ser824Asn) rs1553167616
NM_015074.3(KIF1B):c.2537+3A>G
NM_015074.3(KIF1B):c.2689G>A (p.Ala897Thr) rs142567076
NM_015074.3(KIF1B):c.2692G>A (p.Gly898Ser) rs755314640
NM_015074.3(KIF1B):c.2767T>C (p.Trp923Arg)
NM_015074.3(KIF1B):c.2833del (p.His945fs) rs761398418
NM_015074.3(KIF1B):c.2847C>T (p.Ile949=) rs150904940
NM_015074.3(KIF1B):c.2848G>A (p.Val950Ile) rs145596547
NM_015074.3(KIF1B):c.287A>G (p.Tyr96Cys)
NM_015074.3(KIF1B):c.2904A>C (p.Ala968=)
NM_015074.3(KIF1B):c.2905+4G>A
NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr)
NM_015074.3(KIF1B):c.2991+11G>T rs201224213
NM_015074.3(KIF1B):c.3060A>T (p.Gly1020=)
NM_015074.3(KIF1B):c.3133A>G (p.Ser1045Gly) rs753279755
NM_015074.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528
NM_015074.3(KIF1B):c.3318G>A (p.Thr1106=) rs574168097
NM_015074.3(KIF1B):c.3487C>G (p.Leu1163Val) rs1320246121
NM_015074.3(KIF1B):c.3511C>T (p.Arg1171Cys)
NM_015074.3(KIF1B):c.3516A>G (p.Arg1172=) rs868389032
NM_015074.3(KIF1B):c.3587G>T (p.Ser1196Ile) rs745380720
NM_015074.3(KIF1B):c.3634A>G (p.Ile1212Val)
NM_015074.3(KIF1B):c.364-10A>G rs886044966
NM_015074.3(KIF1B):c.364-15A>G rs771929965
NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg) rs749610931
NM_015074.3(KIF1B):c.3697C>T (p.Pro1233Ser) rs886044985
NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val)
NM_015074.3(KIF1B):c.3881C>A (p.Ser1294Tyr)
NM_015074.3(KIF1B):c.3918-6C>A
NM_015074.3(KIF1B):c.3928C>T (p.Arg1310Cys)
NM_015074.3(KIF1B):c.3929G>A (p.Arg1310His) rs140769726
NM_015074.3(KIF1B):c.3940G>A (p.Val1314Met) rs1553170068
NM_015074.3(KIF1B):c.399C>G (p.Asn133Lys)
NM_015074.3(KIF1B):c.4017G>T (p.Leu1339Phe) rs760253167
NM_015074.3(KIF1B):c.4041T>C (p.His1347=) rs772429569
NM_015074.3(KIF1B):c.4072G>A (p.Val1358Met) rs1557737152
NM_015074.3(KIF1B):c.4099G>A (p.Ala1367Thr) rs1553170117
NM_015074.3(KIF1B):c.4127G>A (p.Arg1376His) rs149417293
NM_015074.3(KIF1B):c.439A>G (p.Met147Val)
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4495A>G (p.Ile1499Val)
NM_015074.3(KIF1B):c.4545C>T (p.Ser1515=) rs751084365
NM_015074.3(KIF1B):c.4623A>G (p.Gln1541=) rs960083901
NM_015074.3(KIF1B):c.4682G>A (p.Cys1561Tyr) rs145969842
NM_015074.3(KIF1B):c.4712G>A (p.Arg1571Gln)
NM_015074.3(KIF1B):c.5076C>G (p.Asp1692Glu) rs774464311
NM_015074.3(KIF1B):c.5087G>A (p.Arg1696His) rs768058092
NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=) rs146436697
NM_015074.3(KIF1B):c.5210A>G (p.Asn1737Ser) rs549813751
NM_015074.3(KIF1B):c.5284C>T (p.Arg1762Cys) rs1060501912
NM_015074.3(KIF1B):c.549G>C (p.Lys183Asn) rs1308362049
NM_015074.3(KIF1B):c.608+7T>C rs886044967
NM_015074.3(KIF1B):c.721-15A>G rs755866386
NM_015074.3(KIF1B):c.776G>A (p.Gly259Asp)
NM_015074.3(KIF1B):c.791G>A (p.Arg264Gln) rs376807805
NM_015074.3(KIF1B):c.85C>G (p.Gln29Glu) rs760368705
NM_015074.3(KIF1B):c.865-10_865-7del rs886044975
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346

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