ClinVar Miner

List of variants in gene FA2H reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.879C>T (p.Pro293=) rs2301865 0.77852
NM_024306.5(FA2H):c.229C>T (p.Leu77=) rs929881 0.33281
NM_024306.5(FA2H):c.888A>G (p.Val296=) rs11554621 0.15840
NM_024306.5(FA2H):c.1039+8T>C rs6564160 0.09790
NM_024306.5(FA2H):c.933T>C (p.Tyr311=) rs11554620 0.08207
NM_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064

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