ClinVar Miner

List of variants in gene combination KIF1B, LOC126805614 reported as uncertain significance for Charcot-Marie-Tooth disease type 2

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.2696G>A (p.Cys899Tyr) rs1188099847 0.00007
NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn) rs370647925 0.00004
NM_001365951.3(KIF1B):c.2693G>A (p.Gly898Asp) rs766101107 0.00002
NM_001365951.3(KIF1B):c.2744C>T (p.Thr915Met) rs749523745 0.00002
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met) rs141942131 0.00002
NM_001365951.3(KIF1B):c.2676-3T>C rs762423160 0.00001
NM_001365951.3(KIF1B):c.2692G>A (p.Gly898Ser) rs773982003 0.00001
NM_001365951.3(KIF1B):c.2704G>A (p.Glu902Lys) rs368663292 0.00001
NM_001365951.3(KIF1B):c.2719C>T (p.Arg907Cys) rs1334915559 0.00001
NM_001365951.3(KIF1B):c.2749G>A (p.Asp917Asn) rs768941996 0.00001
NM_001365951.3(KIF1B):c.2818G>A (p.Val940Met) rs764144206 0.00001
NM_001365951.3(KIF1B):c.2839G>T (p.Ala947Ser) rs748284088 0.00001
NM_001365951.3(KIF1B):c.2869A>G (p.Ser957Gly) rs556117169 0.00001
NM_001365951.3(KIF1B):c.2678C>T (p.Ser893Phe) rs2521638612
NM_001365951.3(KIF1B):c.2707C>A (p.Arg903Ser)
NM_001365951.3(KIF1B):c.2707C>G (p.Arg903Gly) rs868254486
NM_001365951.3(KIF1B):c.2708G>C (p.Arg903Pro) rs778403355
NM_001365951.3(KIF1B):c.2716G>A (p.Asp906Asn) rs758389718
NM_001365951.3(KIF1B):c.2716G>T (p.Asp906Tyr) rs758389718
NM_001365951.3(KIF1B):c.2720G>A (p.Arg907His) rs1651714039
NM_001365951.3(KIF1B):c.2753C>T (p.Ser918Phe) rs2521639426
NM_001365951.3(KIF1B):c.2776G>A (p.Glu926Lys) rs766687578
NM_001365951.3(KIF1B):c.2786A>T (p.Asp929Val) rs2102301786
NM_001365951.3(KIF1B):c.2837A>G (p.Asp946Gly) rs2102301877
NM_001365951.3(KIF1B):c.2838C>A (p.Asp946Glu)
NM_001365951.3(KIF1B):c.2854G>C (p.Gly952Arg) rs1468721966
NM_001365951.3(KIF1B):c.2863C>T (p.Leu955Phe) rs1162993365
NM_001365951.3(KIF1B):c.2875_2883del (p.Gly959_Asp961del) rs1651722145
NM_001365951.3(KIF1B):c.2876G>T (p.Gly959Val) rs2521641228
NM_001365951.3(KIF1B):c.2885C>T (p.Pro962Leu) rs762619916
NM_001365951.3(KIF1B):c.2899T>A (p.Ser967Thr) rs767558208
NM_001365951.3(KIF1B):c.2905T>C (p.Trp969Arg) rs1569831309
NM_001365951.3(KIF1B):c.2909T>A (p.Phe970Tyr)
NM_001365951.3(KIF1B):c.2918T>G (p.Val973Gly) rs2521641594
NM_001365951.3(KIF1B):c.2924+5G>A rs750278986

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