ClinVar Miner

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

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Total variants: 30
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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 0.23876
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.09146
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03502
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 0.03019
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 0.01198
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.00995
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00655
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00439
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00417
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00273
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00147
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00098
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_001365951.3(KIF1B):c.3423-15A>T rs200470260 0.00005
NM_001365951.3(KIF1B):c.1222+16_1222+17del rs35347635
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu) rs1650300630
NM_001365951.3(KIF1B):c.2043-9del rs58344165

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