ClinVar Miner

List of variants reported as benign for methionine adenosyltransferase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000429.3(MAT1A):c.*1206G>A rs1832683
NM_000429.3(MAT1A):c.*1297T>C rs1985908
NM_000429.3(MAT1A):c.*1599_*1600insTTCAGGCTGG rs145159688
NM_000429.3(MAT1A):c.*67C>T rs7087728
NM_000429.3(MAT1A):c.*982A>T rs1934144
NM_000429.3(MAT1A):c.*995del rs5786439
NM_000429.3(MAT1A):c.-90_-88GAA[8] rs10694757
NM_000429.3(MAT1A):c.1085+14C>T rs2994388
NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=) rs2993763
NM_000429.3(MAT1A):c.426T>C (p.Ala142=) rs1143694
NM_000429.3(MAT1A):c.870A>G (p.Val290=) rs10788546
NM_000429.3(MAT1A):c.882T>C (p.Ala294=) rs10887711
NM_000429.3(MAT1A):c.92-9C>G rs10887721

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