ClinVar Miner

List of variants in gene KIF5A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 26
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HGVS dbSNP gnomAD frequency
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.1293+9G>A rs201749114 0.00222
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) rs758700375 0.00003
NM_004984.4(KIF5A):c.1164C>A (p.Ala388=) rs745882021 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.1077G>A (p.Thr359=) rs552427920 0.00001
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.4(KIF5A):c.138A>G (p.Pro46=) rs2140158738
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288

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