ClinVar Miner

List of variants in gene KIF5A studied for not specified

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.36+5C>T rs775249 0.25100
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.2023+18C>T rs192960012 0.00832
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_004984.4(KIF5A):c.446-18T>C rs188999300 0.00237
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.2199-4G>A rs201366820 0.00077
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
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.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=) rs760382029 0.00002
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp) rs779614400 0.00002
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=) rs1007236664 0.00002
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) rs201098122 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.1063G>T (p.Ala355Ser) rs749301835 0.00001
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1218G>C (p.Val406=) rs758977709 0.00001
NM_004984.4(KIF5A):c.1850G>A (p.Arg617His) rs751295639 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.1163C>A (p.Ala388Asp) rs1882197501
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
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.1727T>A (p.Ile576Asn) rs2140167372
NM_004984.4(KIF5A):c.2198+19G>T rs932182752
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.292-4C>A rs760970894
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288

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