ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000429.3(MAT1A):c.426T>C (p.Ala142=) rs1143694 0.76766
NM_000429.3(MAT1A):c.870A>G (p.Val290=) rs10788546 0.73313
NM_000429.3(MAT1A):c.882T>C (p.Ala294=) rs10887711 0.73311
NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=) rs2993763 0.54479
NM_000429.3(MAT1A):c.1085+14C>T rs2994388 0.54474
NM_000429.3(MAT1A):c.*1297T>C rs1985908 0.34331
NM_000429.3(MAT1A):c.92-9C>G rs10887721 0.22736
NM_000429.3(MAT1A):c.*1206G>A rs1832683 0.20619
NM_000429.3(MAT1A):c.*67C>T rs7087728 0.20071
NM_000429.3(MAT1A):c.*982A>T rs1934144 0.13138
NM_000429.3(MAT1A):c.*995del rs5786439 0.09363
NM_000429.3(MAT1A):c.-73A>G rs369803796 0.07074
NM_000429.3(MAT1A):c.*1092C>G rs41284062 0.05472
NM_000429.3(MAT1A):c.*299G>A rs7097297 0.04036
NM_000429.3(MAT1A):c.*569C>G rs78720701 0.03798
NM_000429.3(MAT1A):c.*529G>A rs10509413 0.03535
NM_000429.3(MAT1A):c.*1292G>C rs58141836 0.02887
NM_000429.3(MAT1A):c.-153C>T rs11595587 0.02552
NM_000429.3(MAT1A):c.*1298G>A rs143751338 0.01100
NM_000429.3(MAT1A):c.169+14G>A rs117321518 0.00826
NM_000429.3(MAT1A):c.*275C>T rs76913733 0.00528
NM_000429.3(MAT1A):c.1005C>T (p.Tyr335=) rs61734474 0.00509
NM_000429.3(MAT1A):c.*1599_*1600insTTCAGGCTGG rs145159688
NM_000429.3(MAT1A):c.*863G>A rs41284064
NM_000429.3(MAT1A):c.-90GAA[8] rs10694757

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