ClinVar Miner

List of variants in gene FA2H reported by Genetic Diseases Diagnostic Center, Koc University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.910G>A (p.Gly304Ser) rs1567632441
NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr) rs1274600570

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