ClinVar Miner

List of variants in gene KIF5A reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) rs1060502523
NM_004984.4(KIF5A):c.604A>C (p.Ser202Arg) rs1057524193
NM_004984.4(KIF5A):c.608C>T (p.Ser203Phe) rs2140161563
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro) rs1594915468
NM_004984.4(KIF5A):c.847A>G (p.Lys283Glu) rs1057523746
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000

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