ClinVar Miner

List of variants in gene FA2H reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys) rs758814013 0.00005
NM_024306.5(FA2H):c.968C>T (p.Pro323Leu) rs774131656 0.00003
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_024306.5(FA2H):c.786G>A (p.Lys262=)
NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)

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