ClinVar Miner

List of variants in gene KIF1A reported as pathogenic for Spastic paraplegia 30, autosomal recessive

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Total variants: 7
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HGVS dbSNP
NM_004321.7(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_004321.7(KIF1A):c.1187dup (p.Asn396fs) rs1575600733
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.764C>T (p.Ala255Val) rs387906798
NM_004321.8(KIF1A):c.1867C>T (p.Gln623Ter)
NM_004321.8(KIF1A):c.3975C>G (p.Tyr1325Ter)

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