ClinVar Miner

List of variants in gene KIF1A reported as uncertain significance by SIB Swiss Institute of Bioinformatics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp) rs545501989 0.00001
NM_001244008.2(KIF1A):c.1406C>G (p.Ala469Gly) rs2051688642
NM_001244008.2(KIF1A):c.167A>G (p.Tyr56Cys) rs2055347610
NM_001244008.2(KIF1A):c.221A>G (p.Tyr74Cys) rs2055191530
NM_001244008.2(KIF1A):c.2554C>T (p.Arg852Cys) rs1174253803
NM_001244008.2(KIF1A):c.2880C>A (p.Asn960Lys) rs2049088933
NM_001244008.2(KIF1A):c.3380T>C (p.Ile1127Thr) rs1559495436
NM_001244008.2(KIF1A):c.89T>C (p.Met30Thr) rs2056552194

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