ClinVar Miner

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

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_015074.3(KIF1B):c.*1118G>A rs7544928
NM_015074.3(KIF1B):c.*1133C>T rs4240912
NM_015074.3(KIF1B):c.*1159G>A rs4240913
NM_015074.3(KIF1B):c.*1361A>T rs2847347
NM_015074.3(KIF1B):c.*1986C>G rs557129908
NM_015074.3(KIF1B):c.*2012C>T rs181454124
NM_015074.3(KIF1B):c.*2321A>G rs567547345
NM_015074.3(KIF1B):c.*2661A>T rs6694522
NM_015074.3(KIF1B):c.*2698G>A rs115172954
NM_015074.3(KIF1B):c.*2740C>A rs144047666
NM_015074.3(KIF1B):c.*279C>T rs78490707
NM_015074.3(KIF1B):c.*2869C>T rs3748580
NM_015074.3(KIF1B):c.*2895G>A rs184232081
NM_015074.3(KIF1B):c.*2T>C rs148690591
NM_015074.3(KIF1B):c.*3154A>G rs41310365
NM_015074.3(KIF1B):c.*3341C>T rs139210251
NM_015074.3(KIF1B):c.*3742T>C rs78868210
NM_015074.3(KIF1B):c.*3948G>A rs553404052
NM_015074.3(KIF1B):c.*3988G>A rs571451087
NM_015074.3(KIF1B):c.*4113C>T rs192312673
NM_015074.3(KIF1B):c.*4127dupA rs548680591
NM_015074.3(KIF1B):c.*4267A>G rs77474900
NM_015074.3(KIF1B):c.*4279dupT rs531640427
NM_015074.3(KIF1B):c.*4392A>G rs72867441
NM_015074.3(KIF1B):c.*4958G>A rs150497684
NM_015074.3(KIF1B):c.*712G>A rs146717943
NM_015074.3(KIF1B):c.-136C>T rs181820595
NM_015074.3(KIF1B):c.-16_-15dupTA rs34063243
NM_015074.3(KIF1B):c.-208G>C rs146663377
NM_015074.3(KIF1B):c.-80+1G>T rs140240544
NM_015074.3(KIF1B):c.1104G>A (p.Glu368=) rs774770887
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.1401A>T (p.Gly467=) rs757451919
NM_015074.3(KIF1B):c.1419T>C (p.Asp473=) rs146364486
NM_015074.3(KIF1B):c.1542A>G (p.Gln514=) rs765720258
NM_015074.3(KIF1B):c.1578C>T (p.Ser526=) rs369473758
NM_015074.3(KIF1B):c.1599G>A (p.Glu533=) rs747880909
NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) rs145266399
NM_015074.3(KIF1B):c.1640-5C>T rs567968956
NM_015074.3(KIF1B):c.1680C>T (p.Tyr560=) rs760404775
NM_015074.3(KIF1B):c.184-6_184-5delTT rs138324955
NM_015074.3(KIF1B):c.2172C>T (p.Ala724=) rs749823391
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2328C>T (p.Arg776=) rs753982918
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.2480C>T (p.Thr827Ile) rs121908162
NM_015074.3(KIF1B):c.2553C>T (p.His851=) rs566526002
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.3107G>A (p.Arg1036Gln) rs745363423
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3285-15A>T rs200470260
NM_015074.3(KIF1B):c.3285-15delA rs3215996
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.3726+6A>C rs114266141
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.405T>C (p.Asn135=) rs201229642
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
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.4839T>C (p.Ser1613=) rs778240671
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) rs143669846
NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=) rs146436697
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+8dupA rs139613776
NM_015074.3(KIF1B):c.924C>T (p.Leu308=) rs1060504381
NM_015074.3(KIF1B):c.996C>T (p.Tyr332=) rs150411706
NM_183416.4(KIF1B):c.-260C>T rs149705989

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