ClinVar Miner

List of variants in gene MAT1A reported as likely benign for methionine adenosyltransferase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000429.3(MAT1A):c.1085+15G>A rs147182952 0.00401
NM_000429.3(MAT1A):c.*1268T>C rs146819443 0.00284
NM_000429.3(MAT1A):c.789C>T (p.Gly263=) rs61734475 0.00193
NM_000429.3(MAT1A):c.429C>T (p.Thr143=) rs141010538 0.00051
NM_000429.3(MAT1A):c.170-12G>A rs200462189 0.00038
NM_000429.3(MAT1A):c.696G>A (p.Pro232=) rs139423514 0.00029
NM_000429.3(MAT1A):c.*1727G>A rs78196299 0.00028
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys) rs116528173 0.00022
NM_000429.3(MAT1A):c.705C>T (p.Tyr235=) rs372757656 0.00014
NM_000429.3(MAT1A):c.981G>A (p.Pro327=) rs149163315 0.00012
NM_000429.3(MAT1A):c.777G>A (p.Ala259=) rs150664696 0.00009
NM_000429.3(MAT1A):c.406-7G>A rs763464790 0.00008
NM_000429.3(MAT1A):c.579C>T (p.Gly193=) rs142189986 0.00008
NM_000429.3(MAT1A):c.170-20C>T rs375890664 0.00007
NM_000429.3(MAT1A):c.816C>T (p.Gly272=) rs751778923 0.00007
NM_000429.3(MAT1A):c.204T>C (p.Cys68=) rs200574801 0.00006
NM_000429.3(MAT1A):c.550-5G>A rs761943871 0.00006
NM_000429.3(MAT1A):c.1026G>A (p.Glu342=) rs760038479 0.00004
NM_000429.3(MAT1A):c.405+7C>T rs199791531 0.00004
NM_000429.3(MAT1A):c.510C>T (p.Ser170=) rs763409751 0.00004
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=) rs777896485 0.00002
NM_000429.3(MAT1A):c.1074C>T (p.Gly358=) rs373567910 0.00002
NM_000429.3(MAT1A):c.183G>A (p.Lys61=) rs759429143 0.00002
NM_000429.3(MAT1A):c.276C>T (p.Tyr92=) rs184358377 0.00002
NM_000429.3(MAT1A):c.483C>T (p.Asn161=) rs753853381 0.00002
NM_000429.3(MAT1A):c.642G>A (p.Thr214=) rs539772339 0.00002
NM_000429.3(MAT1A):c.975C>T (p.Ala325=) rs145017867 0.00002
NM_000429.3(MAT1A):c.1002C>T (p.Thr334=) rs748632409 0.00001
NM_000429.3(MAT1A):c.186C>T (p.Thr62=) rs568227561 0.00001
NM_000429.3(MAT1A):c.293-20C>T rs367980533 0.00001
NM_000429.3(MAT1A):c.293-6G>A rs766102623 0.00001
NM_000429.3(MAT1A):c.406-8C>T rs201439535 0.00001
NM_000429.3(MAT1A):c.546T>C (p.Thr182=) rs1158815802 0.00001
NM_000429.3(MAT1A):c.609C>T (p.Ile203=) rs748120797 0.00001
NM_000429.3(MAT1A):c.687C>T (p.Ala229=) rs145297890 0.00001
NM_000429.3(MAT1A):c.1041T>C (p.Asp347=)
NM_000429.3(MAT1A):c.1062C>T (p.Asp354=)
NM_000429.3(MAT1A):c.1083C>T (p.Val361=)
NM_000429.3(MAT1A):c.165C>T (p.Ala55=) rs1305390238
NM_000429.3(MAT1A):c.169+11C>A
NM_000429.3(MAT1A):c.169+13C>T
NM_000429.3(MAT1A):c.169+17C>T
NM_000429.3(MAT1A):c.170-18C>T rs890646273
NM_000429.3(MAT1A):c.174A>G (p.Thr58=) rs146794319
NM_000429.3(MAT1A):c.174A>T (p.Thr58=) rs146794319
NM_000429.3(MAT1A):c.198G>A (p.Leu66=)
NM_000429.3(MAT1A):c.21C>G (p.Gly7=)
NM_000429.3(MAT1A):c.292+16C>T
NM_000429.3(MAT1A):c.390G>C (p.Val130=)
NM_000429.3(MAT1A):c.390G>T (p.Val130=)
NM_000429.3(MAT1A):c.405+8G>A
NM_000429.3(MAT1A):c.417C>T (p.Phe139=)
NM_000429.3(MAT1A):c.432C>T (p.Asp144=)
NM_000429.3(MAT1A):c.550-9G>C rs1589480725
NM_000429.3(MAT1A):c.588C>T (p.Ile196=)
NM_000429.3(MAT1A):c.630C>T (p.Asn210=)
NM_000429.3(MAT1A):c.66G>C (p.Ser22=)
NM_000429.3(MAT1A):c.711C>T (p.Asp237=)
NM_000429.3(MAT1A):c.720C>T (p.Thr240=)
NM_000429.3(MAT1A):c.741T>C (p.Ser247=) rs2132702574
NM_000429.3(MAT1A):c.768+10T>G
NM_000429.3(MAT1A):c.768+20C>T
NM_000429.3(MAT1A):c.769-7T>C
NM_000429.3(MAT1A):c.852G>A (p.Gly284=)
NM_000429.3(MAT1A):c.867G>A (p.Lys289=)
NM_000429.3(MAT1A):c.91+10C>T
NM_000429.3(MAT1A):c.91+11T>G
NM_000429.3(MAT1A):c.918G>C (p.Val306=)
NM_000429.3(MAT1A):c.92-18A>G
NM_000429.3(MAT1A):c.948C>T (p.Val316=)
NM_000429.3(MAT1A):c.951+15C>A rs1191507523
NM_000429.3(MAT1A):c.951+15C>G
NM_000429.3(MAT1A):c.952-18G>A
NM_000429.3(MAT1A):c.952-19C>T

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