ClinVar Miner

List of variants in gene KIF1A studied for Hereditary sensory and autonomic neuropathy type IIA; Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9

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Total variants: 12
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HGVS dbSNP
NM_004321.7(KIF1A):c.1064G>A (p.Arg355His) rs373042822
NM_004321.7(KIF1A):c.1237C>T (p.Arg413Cys) rs374011613
NM_004321.7(KIF1A):c.2968G>C (p.Ala990Pro) rs779093187
NM_004321.7(KIF1A):c.3191T>C (p.Ile1064Thr) rs35698242
NM_004321.7(KIF1A):c.3377C>T (p.Pro1126Leu) rs374244985
NM_004321.7(KIF1A):c.4606G>A (p.Glu1536Lys) rs377032453
NM_004321.7(KIF1A):c.4624G>A (p.Asp1542Asn) rs200141437
NM_004321.7(KIF1A):c.4652G>A (p.Arg1551Gln) rs376658420
NM_004321.7(KIF1A):c.4726G>A (p.Val1576Ile) rs757070178
NM_004321.7(KIF1A):c.4784G>A (p.Arg1595His) rs756912340
NM_004321.7(KIF1A):c.4828G>A (p.Asp1610Asn) rs199574770
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888

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