ClinVar Miner

List of variants in gene KIF1A reported as pathogenic by GeneDx

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Total variants: 20
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HGVS dbSNP
NM_001244008.1(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001244008.1(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001244008.1(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004321.7(KIF1A):c.1040A>G (p.Tyr347Cys) rs879254004
NM_004321.7(KIF1A):c.222_223insGAC (p.Tyr74_Arg75insAsp) rs1064796046
NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_004321.7(KIF1A):c.308A>C (p.Lys103Thr) rs1553639011
NM_004321.7(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_004321.7(KIF1A):c.506G>A (p.Arg169Lys) rs876661168
NM_004321.7(KIF1A):c.512A>C (p.His171Pro) rs876661180
NM_004321.7(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_004321.7(KIF1A):c.650C>G (p.Ser217Cys) rs876661202
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.761G>C (p.Arg254Pro) rs886041692
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161

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