ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
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.*2T>C rs148690591 0.00185
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.2604C>T (p.Asp868=) rs145846362 0.00031
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.608+14T>G rs151026584 0.00016
NM_001365951.3(KIF1B):c.4946+10C>T rs374982816 0.00014
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.4524C>T (p.Thr1508=) rs373636782 0.00012
NM_001365951.3(KIF1B):c.1557T>C (p.Asp519=) rs146364486 0.00007
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=) rs765541693 0.00006
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=) rs572314710 0.00004
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.2537+15A>G rs757030966 0.00001
NM_001365951.3(KIF1B):c.5097-11G>T rs765592840 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.1671-4T>C rs1650224129
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) rs1332046524
NM_001365951.3(KIF1B):c.2043-10_2043-9del rs58344165
NM_001365951.3(KIF1B):c.2043-4C>T rs771419523
NM_001365951.3(KIF1B):c.2358+9C>T rs1651536955
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.4305-17T>A rs1323362062
NM_001365951.3(KIF1B):c.4947-13C>G rs1638826414
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) rs766873320

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