ClinVar Miner

List of variants in gene KIF1B reported as likely pathogenic

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser) rs121908163 0.00006
NM_001365951.3(KIF1B):c.2115+6213G>T rs587777883 0.00003
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys) rs755850268 0.00001
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)

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