ClinVar Miner

List of variants in gene KIF1A reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP
KIF1A, 1-BP DEL, 2840T
KIF1A, 1-BP DUP, 5271C
NM_004321.7(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_004321.7(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_004321.7(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_004321.7(KIF1A):c.764C>T (p.Ala255Val) rs387906798

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