ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.*317C>T rs886049701 0.00034
NM_004984.4(KIF5A):c.*170T>A rs761486570 0.00013
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) rs371548640 0.00006
NM_004984.4(KIF5A):c.*449C>T rs1293182616 0.00005
NM_004984.4(KIF5A):c.396+13C>T rs377008480 0.00005
NM_004984.4(KIF5A):c.292-14C>A rs778921032 0.00004
NM_004984.4(KIF5A):c.-45C>T rs760763129 0.00002
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) rs1227040638 0.00001
NM_004984.4(KIF5A):c.1570-3C>T rs1365061259 0.00001
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951 0.00001
NM_004984.4(KIF5A):c.2300+7G>A rs763362184 0.00001
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) rs777903778 0.00001
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) rs781143696 0.00001
NM_004984.4(KIF5A):c.291+5G>A rs775732465 0.00001
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) rs750415265 0.00001
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) rs756348570 0.00001
NM_004984.4(KIF5A):c.968+12G>C rs536186088 0.00001
NM_004984.4(KIF5A):c.*14C>T rs192586811
NM_004984.4(KIF5A):c.*326G>C rs150199729
NM_004984.4(KIF5A):c.*326G>T rs150199729
NM_004984.4(KIF5A):c.*335T>G rs1882700550
NM_004984.4(KIF5A):c.*422GCAC[4] rs150797197
NM_004984.4(KIF5A):c.*435C>T rs886049704
NM_004984.4(KIF5A):c.*492A>T rs886049705
NM_004984.4(KIF5A):c.*86C>G rs1882692170
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) rs886049700
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) rs149569914
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) rs1055742325
NM_004984.4(KIF5A):c.2433+10G>A rs149832619
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) rs759472256
NM_004984.4(KIF5A):c.2723G>C (p.Ser908Thr) rs748632605
NM_004984.4(KIF5A):c.502-15A>T rs1882086911
NM_004984.4(KIF5A):c.715-9C>A rs1882156694
NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser) rs1882160307
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) rs1404057685

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