ClinVar Miner

List of variants in gene A2ML1 reported by Department of Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) rs192888493 0.00019
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_144670.6(A2ML1):c.3001C>T (p.Arg1001Trp) rs201725377 0.00001
NM_144670.6(A2ML1):c.1067C>G (p.Pro356Arg) rs863224953
NM_144670.6(A2ML1):c.2428G>A (p.Ala810Thr) rs863224954
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs) rs863224951
NM_144670.6(A2ML1):c.2914G>T (p.Glu972Ter) rs760545562
NM_144670.6(A2ML1):c.4292C>T (p.Ala1431Val) rs863224955
NM_144670.6(A2ML1):c.763C>T (p.Gln255Ter) rs863224952

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