ClinVar Miner

List of variants in gene KIF5A reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_004984.4(KIF5A):c.129+9C>T rs372131378 0.00016
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=) rs759750438 0.00009
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=) rs143260492 0.00007
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) rs758700375 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.861T>C (p.Ile287=) rs1283311048 0.00003
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=) rs760382029 0.00002
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=) rs1007236664 0.00002
NM_004984.4(KIF5A):c.510T>G (p.Thr170=) rs369289917 0.00002
NM_004984.4(KIF5A):c.-13G>A rs375902978 0.00001
NM_004984.4(KIF5A):c.1218G>C (p.Val406=) rs758977709 0.00001
NM_004984.4(KIF5A):c.1896C>T (p.Leu632=) rs1161979577 0.00001
NM_004984.4(KIF5A):c.2539-13G>A rs1057523621 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1701C>T (p.Asn567=) rs2140165659
NM_004984.4(KIF5A):c.2198+19G>T rs932182752
NM_004984.4(KIF5A):c.292-4C>A rs760970894
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447

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.