ClinVar Miner

List of variants in gene combination LOC111982876, MAT1A reported as uncertain significance for Hepatic methionine adenosyltransferase deficiency

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000429.3(MAT1A):c.-72A>G rs200488580 0.00044
NM_000429.3(MAT1A):c.-73_-72insGAAAAAA rs145126070
NM_000429.3(MAT1A):c.-75G>A rs74815121
NM_000429.3(MAT1A):c.-90GAA[7] rs10694757
NM_000429.3(MAT1A):c.-90GAA[9] rs10694757

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