ClinVar Miner

List of variants reported as pathogenic for methionine adenosyltransferase deficiency

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
MAT1A, 1-BP INS, 827G
MAT1A, 2-BP DEL, 1043TG
MAT1A, 2-BP INS, 539TG
NM_000429.3(MAT1A):c.1006G>A (p.Gly336Arg) rs118204006
NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) rs118204003
NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp) rs118204002
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) rs138556525
NM_000429.3(MAT1A):c.790C>T (p.Arg264Cys) rs118204005
NM_000429.3(MAT1A):c.791G>A (p.Arg264His) rs72558181
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) rs376993881
NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro) rs118204004
NM_000429.3(MAT1A):c.966T>G (p.Ile322Met) rs118204001

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