ClinVar Miner

List of variants reported as benign for methionine adenosyltransferase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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.92-9C>G rs10887721 0.22736
NM_000429.3(MAT1A):c.169+14G>A rs117321518 0.00826
NM_000429.3(MAT1A):c.1005C>T (p.Tyr335=) rs61734474 0.00509
NM_000429.3(MAT1A):c.1085+15G>A rs147182952 0.00401
NM_000429.3(MAT1A):c.885A>T (p.Ala295=) rs17851642 0.00332
NM_000429.3(MAT1A):c.789C>T (p.Gly263=) rs61734475 0.00193
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys) rs116528173 0.00022

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