ClinVar Miner

List of variants in gene KIF1A reported as pathogenic for not provided

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys) rs879254004
NM_001244008.2(KIF1A):c.1529del (p.Pro510fs) rs1057519164
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.222_223insGAC (p.Tyr74_Arg75insAsp) rs1064796046
NM_001244008.2(KIF1A):c.275G>A (p.Cys92Tyr)
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.308A>C (p.Lys103Thr) rs1553639011
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_001244008.2(KIF1A):c.4869-2A>C rs2125575723
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.506G>A (p.Arg169Lys) rs876661168
NM_001244008.2(KIF1A):c.512A>C (p.His171Pro) rs876661180
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.650C>G (p.Ser217Cys) rs876661202
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro) rs672601371
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.761G>C (p.Arg254Pro) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.835G>C (p.Gly279Arg)
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370

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