List of variants in gene KIF5A studied for Hereditary spastic paraplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 45

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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.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.2418G>A (p.Thr806=)	rs113155897	0.00100
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	0.00064
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)	rs140929639	0.00056
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.2718C>T (p.Tyr906=)	rs147057295	0.00019
NM_004984.4(KIF5A):c.2040G>A (p.Val680=)	rs117670788	0.00016
NM_004984.4(KIF5A):c.292-5G>A	rs201917057	0.00016
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)	rs139801016	0.00016
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=)	rs148434838	0.00011
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)	rs780381269	0.00007
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=)	rs138475832	0.00007
NM_004984.4(KIF5A):c.2271C>T (p.His757=)	rs374554951	0.00005
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)	rs749301835	0.00001
NM_004984.4(KIF5A):c.2126C>T (p.Ala709Val)	rs368671947	0.00001
NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys)	rs749616160	0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)	rs1012819766	0.00001
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=)	rs75907338
NM_004984.4(KIF5A):c.1819C>A (p.Gln607Lys)
NM_004984.4(KIF5A):c.2563C>T (p.Arg855Cys)	rs2140171424
NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe)	rs1882602063
NM_004984.4(KIF5A):c.2956C>T (p.Pro986Ser)	rs2140172158
NM_004984.4(KIF5A):c.2993-6C>A	rs1057522322
NM_004984.4(KIF5A):c.397-9C>A	rs777193528
NM_004984.4(KIF5A):c.543G>A (p.Leu181=)	rs2140161229
NM_004984.4(KIF5A):c.572G>A (p.Arg191His)	rs1488871976
NM_004984.4(KIF5A):c.587C>T (p.Thr196Ile)	rs2140161296
NM_004984.4(KIF5A):c.597T>G (p.Asn199Lys)	rs11172251
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)	rs1555177629
NM_004984.4(KIF5A):c.794T>G (p.Val265Gly)
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)	rs1555177824
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	rs387907288
NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr)	rs1224640834
NM_004984.4(KIF5A):c.862C>T (p.Leu288Phe)	rs2140162896
NM_004984.4(KIF5A):c.868G>C (p.Asp290His)	rs1555177831
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe)	rs761812789

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