ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
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 0.23876
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.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.3864+6A>C rs114266141 0.00681
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.5020G>A (p.Glu1674Lys) rs143669846 0.00293
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00273
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
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.3259+9A>G rs149566646 0.00113
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00098
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00098
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.2245T>C (p.Trp749Arg) rs551543997 0.00073
NM_001365951.3(KIF1B):c.959-17A>G rs372958251 0.00060
NM_001365951.3(KIF1B):c.184-19C>T rs184562782 0.00059
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.654C>T (p.His218=) rs142209186 0.00007
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.1777+7A>T rs367898139 0.00004
NM_001365951.3(KIF1B):c.4281C>T (p.Ser1427=) rs148438684 0.00003
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.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.3044-10del rs758417740
NM_001365951.3(KIF1B):c.3044-10dup rs758417740
NM_001365951.3(KIF1B):c.3864+20del rs2521792560
NM_001365951.3(KIF1B):c.4304+10del rs2521887016
NM_001365951.3(KIF1B):c.5408+11TTG[5] rs371033478
NM_001365951.3(KIF1B):c.5409-16del rs2102365749

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.