ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance for Hereditary spastic paraplegia

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Total variants: 21
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HGVS dbSNP gnomAD frequency
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.2718C>T (p.Tyr906=) rs147057295 0.00019
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=) rs780381269 0.00007
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951 0.00005
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.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.794T>G (p.Val265Gly)
NM_004984.4(KIF5A):c.862C>T (p.Leu288Phe) rs2140162896
NM_004984.4(KIF5A):c.872C>T (p.Ser291Phe) rs761812789

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