ClinVar Miner

List of variants in gene KIF5A studied for Spastic paraplegia, autosomal dominant

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Total variants: 43
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HGVS dbSNP
NM_004984.4(KIF5A):c.*163C>T rs77345621
NM_004984.4(KIF5A):c.*170T>A rs761486570
NM_004984.4(KIF5A):c.*317C>T rs886049701
NM_004984.4(KIF5A):c.*326G>C rs150199729
NM_004984.4(KIF5A):c.*326G>T rs150199729
NM_004984.4(KIF5A):c.*422_*425GCAC[2] rs150797197
NM_004984.4(KIF5A):c.*422_*425GCAC[4] rs150797197
NM_004984.4(KIF5A):c.*435C>T rs886049704
NM_004984.4(KIF5A):c.*492A>T rs886049705
NM_004984.4(KIF5A):c.-193G>A rs886049699
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) rs886049700
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.4(KIF5A):c.129+9C>T rs372131378
NM_004984.4(KIF5A):c.1293+9G>A rs201749114
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) rs112982686
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) rs144382702
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788
NM_004984.4(KIF5A):c.2199-4G>A rs201366820
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) rs777903778
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=) rs759750438
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) rs781143696
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110
NM_004984.4(KIF5A):c.292-14C>A rs778921032
NM_004984.4(KIF5A):c.292-5G>A rs201917057
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) rs750415265
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) rs756348570
NM_004984.4(KIF5A):c.36+5C>T rs775249
NM_004984.4(KIF5A):c.396+13C>T rs377008480
NM_004984.4(KIF5A):c.396+14G>A rs17119769
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) rs140144799
NM_004984.4(KIF5A):c.714+8G>A rs199624091
NM_004984.4(KIF5A):c.968+12G>C rs536186088

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