ClinVar Miner

List of variants in gene KIF1A reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_001244008.2(KIF1A):c.1181-6C>G rs535005700 0.00011
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp) rs765668490 0.00009
NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu) rs763750448 0.00008
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=) rs758111969 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001244008.2(KIF1A):c.1597G>A (p.Glu533Lys) rs764182180 0.00003
NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=) rs371444142 0.00002
NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn) rs1064796756 0.00002
NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln) rs761974755 0.00002
NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser) rs1288885072 0.00001
NM_001244008.2(KIF1A):c.3375C>T (p.Asn1125=) rs1380599495 0.00001
NM_001244008.2(KIF1A):c.4555G>A (p.Glu1519Lys) rs769965899 0.00001
NM_001244008.2(KIF1A):c.4813C>T (p.Pro1605Ser) rs916993059 0.00001
NM_001244008.2(KIF1A):c.799-4G>A rs759945798 0.00001
NM_001244008.2(KIF1A):c.1022C>T (p.Thr341Ile)
NM_001244008.2(KIF1A):c.1768+4T>C rs780489790
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.1A>G (p.Met1Val) rs1559538947
NM_001244008.2(KIF1A):c.220T>A (p.Tyr74Asn) rs2126092196
NM_001244008.2(KIF1A):c.2748G>T (p.Glu916Asp)
NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu) rs878988727
NM_001244008.2(KIF1A):c.3221T>G (p.Leu1074Arg)
NM_001244008.2(KIF1A):c.3223C>T (p.Leu1075Phe)
NM_001244008.2(KIF1A):c.3263T>C (p.Leu1088Pro)
NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser) rs755380517
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del) rs760590728

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.