ClinVar Miner

List of variants in gene KIF1A reported as pathogenic for Mental retardation, autosomal dominant 9

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Total variants: 11
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HGVS dbSNP
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.265T>G (p.Tyr89Asp) rs869312711
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.914C>T (p.Pro305Leu) rs1131690804
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370

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