ClinVar Miner

List of variants in gene combination KIF1A, LOC126806583 reported as likely benign for neuropathy, hereditary sensory, type 2C

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys) rs199998986 0.00009
NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met) rs797045652 0.00006
NM_001244008.2(KIF1A):c.3778G>A (p.Gly1260Arg) rs373019389 0.00005
NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=) rs777751073 0.00003
NM_001244008.2(KIF1A):c.3762C>T (p.Ala1254=) rs758470895 0.00003
NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His) rs371517661 0.00003
NM_001244008.2(KIF1A):c.3810C>T (p.Leu1270=) rs542607961 0.00002
NM_001244008.2(KIF1A):c.3816+20C>T rs376501987 0.00002
NM_001244008.2(KIF1A):c.3897C>T (p.Val1299=) rs765966897 0.00002
NM_001244008.2(KIF1A):c.3901+9G>A rs141647310 0.00002
NM_001244008.2(KIF1A):c.3750-19_3750-18del rs2047818019 0.00001
NM_001244008.2(KIF1A):c.3765G>T (p.Val1255=) rs765454599 0.00001
NM_001244008.2(KIF1A):c.3775C>T (p.Arg1259Cys) rs766693472 0.00001
NM_001244008.2(KIF1A):c.3776G>A (p.Arg1259His) rs761077237 0.00001
NM_001244008.2(KIF1A):c.3816+8C>T rs776328472 0.00001
NM_001244008.2(KIF1A):c.3817-20C>T rs773007973 0.00001
NM_001244008.2(KIF1A):c.3817-6C>T rs748123503 0.00001
NM_001244008.2(KIF1A):c.3867T>C (p.His1289=) rs903579697 0.00001
NM_001244008.2(KIF1A):c.3872G>A (p.Arg1291His) rs201653410 0.00001
NM_001244008.2(KIF1A):c.3901+8C>T rs1461765194 0.00001
NM_001244008.2(KIF1A):c.3750-10T>G
NM_001244008.2(KIF1A):c.3750-13C>G rs745684767
NM_001244008.2(KIF1A):c.3750-13C>T
NM_001244008.2(KIF1A):c.3750-17G>A
NM_001244008.2(KIF1A):c.3750-20C>T
NM_001244008.2(KIF1A):c.3750-9C>G
NM_001244008.2(KIF1A):c.3756C>T (p.Ile1252=) rs2125746153
NM_001244008.2(KIF1A):c.3759G>C (p.Pro1253=) rs777751073
NM_001244008.2(KIF1A):c.3768G>A (p.Val1256=)
NM_001244008.2(KIF1A):c.3784A>G (p.Met1262Val)
NM_001244008.2(KIF1A):c.3793A>T (p.Met1265Leu)
NM_001244008.2(KIF1A):c.3794T>C (p.Met1265Thr)
NM_001244008.2(KIF1A):c.3816+15T>C
NM_001244008.2(KIF1A):c.3816+20C>G rs376501987
NM_001244008.2(KIF1A):c.3817-10G>A rs962822799
NM_001244008.2(KIF1A):c.3817-12T>C
NM_001244008.2(KIF1A):c.3817-4G>A
NM_001244008.2(KIF1A):c.3825G>A (p.Gln1275=) rs2125743828
NM_001244008.2(KIF1A):c.3870C>A (p.Ile1290=) rs2125743520
NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly) rs201684653
NM_001244008.2(KIF1A):c.3886C>T (p.Arg1296Cys) rs201684653
NM_001244008.2(KIF1A):c.3888C>A (p.Arg1296=) rs144520412
NM_001244008.2(KIF1A):c.3901+14G>A
NM_001244008.2(KIF1A):c.3901+14G>C rs1429288747
NM_001244008.2(KIF1A):c.3901+15G>A
NM_001244008.2(KIF1A):c.3901+16G>A rs2125743058
NM_001244008.2(KIF1A):c.3901+18G>A rs1196829108
NM_001244008.2(KIF1A):c.3901+20T>A
NM_001244008.2(KIF1A):c.3901+8C>A
NM_001244008.2(KIF1A):c.3901+9G>C rs141647310

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.