ClinVar Miner

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

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.10381606T>C rs3748581 0.53815
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 0.23676
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.1180+18C>T rs41274456 0.03074
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 0.01293
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
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.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
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.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_001365951.3(KIF1B):c.959-17A>G rs372958251 0.00067
NM_001365951.3(KIF1B):c.184-19C>T rs184562782 0.00065
NM_001365951.3(KIF1B):c.1435-15C>T rs371838261 0.00044
NM_001365951.3(KIF1B):c.4824+15T>G rs201508062 0.00018
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln) rs373439616 0.00017
NM_001365951.3(KIF1B):c.1180+19G>A rs200480069 0.00012
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=) rs765541693 0.00006
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=) rs763679404 0.00005
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001365951.3(KIF1B):c.4281C>T (p.Ser1427=) rs148438684 0.00003
NM_001365951.3(KIF1B):c.654C>T (p.His218=) rs142209186 0.00002
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001365951.3(KIF1B):c.1037+12del
NM_001365951.3(KIF1B):c.1038-15dup rs765965212
NM_001365951.3(KIF1B):c.1515-6del
NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=) rs530566864
NM_001365951.3(KIF1B):c.1777+7A>T rs367898139
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.3044-10del rs758417740
NM_001365951.3(KIF1B):c.3044-10dup
NM_001365951.3(KIF1B):c.3864+20del
NM_001365951.3(KIF1B):c.4304+10del
NM_001365951.3(KIF1B):c.5408+11TTG[5] rs371033478
NM_001365951.3(KIF1B):c.5409-16del rs2102365749

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