ClinVar Miner

List of variants in gene KIF1A reported as pathogenic for Inborn genetic diseases

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Total variants: 4
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HGVS dbSNP
NM_004321.7(KIF1A):c.350G>T (p.Gly117Val) rs1200817308
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004321.7(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370

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