ClinVar Miner

List of variants in gene KIF1A reported as pathogenic by Invitae

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Total variants: 16
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HGVS dbSNP
NC_000002.12:g.(?_240717364)_(240797752_?)del
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) rs587778791
NM_004321.7(KIF1A):c.1927C>T (p.Gln643Ter) rs748477031
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.2323C>T (p.Arg775Ter) rs1327297188
NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_004321.7(KIF1A):c.3523C>T (p.Arg1175Ter) rs368078424
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.4678C>T (p.Gln1560Ter) rs1575514086
NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004321.8(KIF1A):c.10del (p.Ala4fs)

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