ClinVar Miner

List of variants in gene A2ML1 reported by Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser) rs61744220 0.02860
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn) rs483352823 0.00001
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.3287C>T (p.Ser1096Phe) rs483352824
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg) rs11047499
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu) rs61921916

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