ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_004984.4(KIF5A):c.1195G>A (p.Val399Met) rs908820800 0.00004
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) rs370132723 0.00004
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys) rs962405110 0.00003
NM_004984.4(KIF5A):c.2135G>A (p.Arg712Gln) rs373969485 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.5C>T (p.Ala2Val) rs780433858 0.00002
NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys) rs769763596 0.00001
NM_004984.4(KIF5A):c.2939C>T (p.Ala980Val) rs759169064 0.00001
NM_004984.4(KIF5A):c.1067A>G (p.Gln356Arg)
NM_004984.4(KIF5A):c.1126G>A (p.Val376Met)
NM_004984.4(KIF5A):c.1176G>C (p.Glu392Asp) rs75907338
NM_004984.4(KIF5A):c.1601A>G (p.Gln534Arg)
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
NM_004984.4(KIF5A):c.2240C>G (p.Ala747Gly) rs749023785
NM_004984.4(KIF5A):c.2404G>A (p.Val802Ile)
NM_004984.4(KIF5A):c.2696G>A (p.Arg899His)
NM_004984.4(KIF5A):c.2717A>G (p.Tyr906Cys)
NM_004984.4(KIF5A):c.2840C>G (p.Thr947Ser)
NM_004984.4(KIF5A):c.466G>A (p.Val156Met)

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