ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance for Spastic paraplegia, autosomal dominant

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Total variants: 27
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HGVS dbSNP
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[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.129+9C>T rs372131378
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.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.2478A>C (p.Gln826His) rs777903778
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) rs781143696
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110
NM_004984.4(KIF5A):c.292-14C>A rs778921032
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016
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.396+13C>T rs377008480
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.968+12G>C rs536186088

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