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: 200
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HGVS dbSNP
NC_000001.10:g.(?_10292387)_(10431330_?)dup
NC_000001.11:g.(?_10232329)_(10371272_?)dup
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_001365951.3(KIF1B):c.1048C>T (p.Arg350Cys)
NM_001365951.3(KIF1B):c.1075G>T (p.Val359Phe)
NM_001365951.3(KIF1B):c.1109G>A (p.Arg370His)
NM_001365951.3(KIF1B):c.1151G>A (p.Arg384His)
NM_001365951.3(KIF1B):c.1319C>G (p.Thr440Ser)
NM_001365951.3(KIF1B):c.1346G>A (p.Ser449Asn)
NM_001365951.3(KIF1B):c.1369G>A (p.Val457Met)
NM_001365951.3(KIF1B):c.1393A>T (p.Met465Leu)
NM_001365951.3(KIF1B):c.1671-3C>G
NM_001365951.3(KIF1B):c.1720G>C (p.Ala574Pro)
NM_001365951.3(KIF1B):c.1765A>G (p.Asn589Asp)
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg)
NM_001365951.3(KIF1B):c.1778T>A (p.Val593Asp)
NM_001365951.3(KIF1B):c.185C>T (p.Pro62Leu)
NM_001365951.3(KIF1B):c.187G>A (p.Glu63Lys)
NM_001365951.3(KIF1B):c.1906C>G (p.His636Asp)
NM_001365951.3(KIF1B):c.1911G>A (p.Pro637=)
NM_001365951.3(KIF1B):c.1921C>T (p.Arg641Ter)
NM_001365951.3(KIF1B):c.1940C>T (p.Thr647Ile)
NM_001365951.3(KIF1B):c.214C>T (p.Arg72Cys)
NM_001365951.3(KIF1B):c.2192AGGAAGAAG[1] (p.Glu734_Glu736del)
NM_001365951.3(KIF1B):c.2281T>G (p.Ser761Ala)
NM_001365951.3(KIF1B):c.2304C>T (p.Gly768=)
NM_001365951.3(KIF1B):c.2358+1G>A
NM_001365951.3(KIF1B):c.236A>G (p.Lys79Arg)
NM_001365951.3(KIF1B):c.2393T>C (p.Leu798Pro)
NM_001365951.3(KIF1B):c.2399C>A (p.Ser800Tyr)
NM_001365951.3(KIF1B):c.2459T>G (p.Phe820Cys)
NM_001365951.3(KIF1B):c.2468C>T (p.Thr823Ile)
NM_001365951.3(KIF1B):c.2558G>A (p.Arg853Gln)
NM_001365951.3(KIF1B):c.2605G>A (p.Glu869Lys)
NM_001365951.3(KIF1B):c.2693G>A (p.Gly898Asp)
NM_001365951.3(KIF1B):c.2707C>G (p.Arg903Gly)
NM_001365951.3(KIF1B):c.2744C>T (p.Thr915Met)
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
NM_001365951.3(KIF1B):c.2869A>G (p.Ser957Gly)
NM_001365951.3(KIF1B):c.2959G>A (p.Val987Met)
NM_001365951.3(KIF1B):c.3003A>G (p.Glu1001=)
NM_001365951.3(KIF1B):c.3013T>G (p.Phe1005Val)
NM_001365951.3(KIF1B):c.3043+3A>T
NM_001365951.3(KIF1B):c.3104C>A (p.Ser1035Tyr)
NM_001365951.3(KIF1B):c.3112A>G (p.Asn1038Asp)
NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys)
NM_001365951.3(KIF1B):c.3125A>G (p.Asn1042Ser)
NM_001365951.3(KIF1B):c.3259+3A>C
NM_001365951.3(KIF1B):c.3431A>G (p.His1144Arg)
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
NM_001365951.3(KIF1B):c.3455C>T (p.Thr1152Met)
NM_001365951.3(KIF1B):c.3514-10T>A
NM_001365951.3(KIF1B):c.3628A>C (p.Asn1210His)
NM_001365951.3(KIF1B):c.3644C>T (p.Pro1215Leu)
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His)
NM_001365951.3(KIF1B):c.3743G>A (p.Ser1248Asn)
NM_001365951.3(KIF1B):c.3754C>T (p.Leu1252Phe)
NM_001365951.3(KIF1B):c.3760G>A (p.Val1254Ile)
NM_001365951.3(KIF1B):c.3812T>C (p.Val1271Ala)
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)
NM_001365951.3(KIF1B):c.3935G>A (p.Arg1312His)
NM_001365951.3(KIF1B):c.3959G>A (p.Arg1320Gln)
NM_001365951.3(KIF1B):c.3968C>T (p.Pro1323Leu)
NM_001365951.3(KIF1B):c.4106T>G (p.Leu1369Arg)
NM_001365951.3(KIF1B):c.4157C>T (p.Ser1386Leu)
NM_001365951.3(KIF1B):c.4171C>T (p.Leu1391=)
NM_001365951.3(KIF1B):c.4196T>C (p.Val1399Ala)
NM_001365951.3(KIF1B):c.4280G>C (p.Ser1427Thr)
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr)
NM_001365951.3(KIF1B):c.4338A>C (p.Leu1446Phe)
NM_001365951.3(KIF1B):c.4347G>A (p.Met1449Ile)
NM_001365951.3(KIF1B):c.4367-9_4367-8del
NM_001365951.3(KIF1B):c.4405G>A (p.Val1469Met)
NM_001365951.3(KIF1B):c.4444C>T (p.Arg1482Trp)
NM_001365951.3(KIF1B):c.4450C>T (p.Arg1484Cys)
NM_001365951.3(KIF1B):c.4466T>C (p.Ile1489Thr)
NM_001365951.3(KIF1B):c.4522A>G (p.Thr1508Ala)
NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)
NM_001365951.3(KIF1B):c.4574_4575delinsAT (p.Ser1525Tyr)
NM_001365951.3(KIF1B):c.4590A>T (p.Leu1530Phe)
NM_001365951.3(KIF1B):c.4627A>G (p.Thr1543Ala)
NM_001365951.3(KIF1B):c.4644G>T (p.Gln1548His)
NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr)
NM_001365951.3(KIF1B):c.4684G>A (p.Glu1562Lys)
NM_001365951.3(KIF1B):c.4697A>G (p.Tyr1566Cys)
NM_001365951.3(KIF1B):c.4711A>C (p.Ile1571Leu)
NM_001365951.3(KIF1B):c.4723G>A (p.Val1575Met)
NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser)
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
NM_001365951.3(KIF1B):c.4816G>C (p.Asp1606His)
NM_001365951.3(KIF1B):c.4824+3G>A
NM_001365951.3(KIF1B):c.4843A>G (p.Ile1615Val)
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
NM_001365951.3(KIF1B):c.4847G>A (p.Gly1616Glu)
NM_001365951.3(KIF1B):c.4904G>T (p.Cys1635Phe)
NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)
NM_001365951.3(KIF1B):c.4988A>C (p.Glu1663Ala)
NM_001365951.3(KIF1B):c.5008G>A (p.Val1670Ile)
NM_001365951.3(KIF1B):c.500G>A (p.Arg167His)
NM_001365951.3(KIF1B):c.5014G>C (p.Ala1672Pro)
NM_001365951.3(KIF1B):c.5039G>A (p.Arg1680Gln)
NM_001365951.3(KIF1B):c.5053G>A (p.Glu1685Lys)
NM_001365951.3(KIF1B):c.5137C>G (p.Pro1713Ala)
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)
NM_001365951.3(KIF1B):c.5177G>A (p.Arg1726His)
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
NM_001365951.3(KIF1B):c.520C>T (p.Leu174Phe)
NM_001365951.3(KIF1B):c.5236A>C (p.Asn1746His)
NM_001365951.3(KIF1B):c.5260T>G (p.Tyr1754Asp)
NM_001365951.3(KIF1B):c.5294C>T (p.Pro1765Leu)
NM_001365951.3(KIF1B):c.5322C>G (p.His1774Gln)
NM_001365951.3(KIF1B):c.5324G>A (p.Arg1775His)
NM_001365951.3(KIF1B):c.5369G>C (p.Trp1790Ser)
NM_001365951.3(KIF1B):c.5407C>T (p.Arg1803Trp)
NM_001365951.3(KIF1B):c.5441C>T (p.Ser1814Leu)
NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)
NM_001365951.3(KIF1B):c.61A>G (p.Ser21Gly)
NM_001365951.3(KIF1B):c.662T>G (p.Phe221Cys)
NM_001365951.3(KIF1B):c.665C>T (p.Thr222Met)
NM_001365951.3(KIF1B):c.668T>C (p.Ile223Thr)
NM_001365951.3(KIF1B):c.731T>C (p.Ile244Thr)
NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg)
NM_001365951.3(KIF1B):c.783A>G (p.Lys261=)
NM_001365951.3(KIF1B):c.82A>C (p.Ile28Leu)
NM_001365951.3(KIF1B):c.891GAA[2] (p.Lys300del)
NM_015074.3(KIF1B):c.*1104C>T rs886044995
NM_015074.3(KIF1B):c.*1363dup rs567435289
NM_015074.3(KIF1B):c.*2032T>A rs190108168
NM_015074.3(KIF1B):c.*281_*282dup rs886044986
NM_015074.3(KIF1B):c.*281_*286del rs886044990
NM_015074.3(KIF1B):c.*2978dup rs145348144
NM_015074.3(KIF1B):c.*3644dup rs775451005
NM_015074.3(KIF1B):c.*4664_*4665insG rs571589510
NM_015074.3(KIF1B):c.1020-5del rs886044976
NM_015074.3(KIF1B):c.1115G>A (p.Arg372Gln) rs750790168
NM_015074.3(KIF1B):c.1161T>C (p.Asp387=) rs1060501914
NM_015074.3(KIF1B):c.1226C>T (p.Thr409Met) rs201474903
NM_015074.3(KIF1B):c.1296+5del rs1569695564
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) rs1569742672
NM_015074.3(KIF1B):c.1558C>T (p.Arg520Cys) rs985819179
NM_015074.3(KIF1B):c.1567A>G (p.Ile523Val) rs374848403
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.1977+6A>T rs149407490
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) rs761343609
NM_015074.3(KIF1B):c.2471G>A (p.Ser824Asn) rs1553167616
NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys) rs763122049
NM_015074.3(KIF1B):c.2537+3A>G rs200684032
NM_015074.3(KIF1B):c.2767T>C (p.Trp923Arg) rs1569831309
NM_015074.3(KIF1B):c.2833del (p.His945fs) rs761398418
NM_015074.3(KIF1B):c.2848G>A (p.Val950Ile) rs145596547
NM_015074.3(KIF1B):c.287A>G (p.Tyr96Cys) rs774337231
NM_015074.3(KIF1B):c.2904A>C (p.Ala968=) rs748192983
NM_015074.3(KIF1B):c.2905+4G>A rs1331772399
NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr) rs200614254
NM_015074.3(KIF1B):c.3060A>T (p.Gly1020=) rs372610670
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.3269T>C (p.Ile1090Thr) rs374098797
NM_015074.3(KIF1B):c.3487C>G (p.Leu1163Val) rs1320246121
NM_015074.3(KIF1B):c.3511C>T (p.Arg1171Cys) rs763460099
NM_015074.3(KIF1B):c.3634A>G (p.Ile1212Val) rs746270104
NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg) rs749610931
NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val) rs529804940
NM_015074.3(KIF1B):c.3787A>G (p.Lys1263Glu) rs772177176
NM_015074.3(KIF1B):c.3881C>A (p.Ser1294Tyr) rs202229713
NM_015074.3(KIF1B):c.3918-6C>A rs754886872
NM_015074.3(KIF1B):c.3928C>T (p.Arg1310Cys) rs1231187230
NM_015074.3(KIF1B):c.3940G>A (p.Val1314Met) rs1553170068
NM_015074.3(KIF1B):c.399C>G (p.Asn133Lys) rs996589396
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) rs796287290
NM_015074.3(KIF1B):c.4495A>G (p.Ile1499Val) rs148387809
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) rs775481158
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.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.776G>A (p.Gly259Asp) rs767229413
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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