ClinVar Miner

List of variants in gene KIF1A reported as likely pathogenic

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Total variants: 42
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HGVS dbSNP
NM_004321.7(KIF1A):c.1394+2T>A rs751051049
NM_004321.7(KIF1A):c.1450G>A (p.Gly484Ser) rs879253991
NM_004321.7(KIF1A):c.1502del (p.Pro501fs) rs1057519164
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.1871G>A (p.Arg624His) rs1553633823
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.2089+1G>C rs1553633687
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004321.7(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_004321.7(KIF1A):c.2543G>A (p.Arg848Gln) rs1195594601
NM_004321.7(KIF1A):c.254C>A (p.Ala85Asp) rs1553639041
NM_004321.7(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln)
NM_004321.7(KIF1A):c.3607C>T (p.Arg1203Ter) rs879254106
NM_004321.7(KIF1A):c.37C>A (p.Arg13Ser) rs1064794935
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.4016-2A>G rs1559477798
NM_004321.7(KIF1A):c.4036C>T (p.Arg1346Ter) rs1057519240
NM_004321.7(KIF1A):c.430G>T (p.Val144Phe) rs672601364
NM_004321.7(KIF1A):c.4565+1G>C rs1553624714
NM_004321.7(KIF1A):c.499C>T (p.Arg167Cys) rs672601365
NM_004321.7(KIF1A):c.506G>C (p.Arg169Thr)
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004321.7(KIF1A):c.609-1G>A rs1559527796
NM_004321.7(KIF1A):c.641G>A (p.Ser214Asn) rs1553638309
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_004321.7(KIF1A):c.749C>A (p.Ala250Asp) rs1559526692
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004321.7(KIF1A):c.798+1G>A rs1064796565
NM_004321.7(KIF1A):c.799G>C (p.Glu267Gln)
NM_004321.7(KIF1A):c.803G>A (p.Gly268Glu) rs1057518226
NM_004321.7(KIF1A):c.815A>G (p.Asn272Ser) rs876661283
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.829A>C (p.Thr277Pro) rs879254017
NM_004321.7(KIF1A):c.833T>C (p.Leu278Pro) rs1131692159
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004321.7(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
NM_004321.7(KIF1A):c.925T>C (p.Ser309Pro) rs879253998
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096

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