ClinVar Miner

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

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Total variants: 2
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NM_001244008.1(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_001244008.1(KIF1A):c.764C>T (p.Ala255Val) rs387906798

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