ClinVar Miner

List of variants in gene MAT1A reported as uncertain significance for Hepatic methionine adenosyltransferase deficiency

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Gene type:
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Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000429.3(MAT1A):c.*1029G>A rs886047309 0.00097
NM_000429.3(MAT1A):c.170-12G>A rs200462189 0.00038
NM_000429.3(MAT1A):c.*1820G>A rs552103645 0.00025
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys) rs116528173 0.00022
NM_000429.3(MAT1A):c.*1858T>C rs150070127 0.00021
NM_000429.3(MAT1A):c.-63C>T rs886047321 0.00017
NM_000429.3(MAT1A):c.*1673C>T rs754180251 0.00014
NM_000429.3(MAT1A):c.981G>A (p.Pro327=) rs149163315 0.00012
NM_000429.3(MAT1A):c.641C>T (p.Thr214Met) rs754347805 0.00011
NM_000429.3(MAT1A):c.488G>A (p.Arg163Gln) rs752361383 0.00008
NM_000429.3(MAT1A):c.916G>C (p.Val306Leu) rs369601773 0.00008
NM_000429.3(MAT1A):c.326C>T (p.Ala109Val) rs750359732 0.00007
NM_000429.3(MAT1A):c.816C>T (p.Gly272=) rs751778923 0.00007
NM_000429.3(MAT1A):c.*1207T>C rs572585579 0.00006
NM_000429.3(MAT1A):c.204T>C (p.Cys68=) rs200574801 0.00006
NM_000429.3(MAT1A):c.227T>C (p.Met76Thr) rs572741145 0.00006
NM_000429.3(MAT1A):c.550-5G>A rs761943871 0.00006
NM_000429.3(MAT1A):c.*1058T>C rs563243686 0.00005
NM_000429.3(MAT1A):c.*862C>T rs886047311 0.00005
NM_000429.3(MAT1A):c.11C>T (p.Pro4Leu) rs546790330 0.00005
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) rs750570720 0.00005
NM_000429.3(MAT1A):c.242G>A (p.Arg81Gln) rs199600641 0.00005
NM_000429.3(MAT1A):c.592G>A (p.Val198Met) rs374844302 0.00005
NM_000429.3(MAT1A):c.631G>A (p.Glu211Lys) rs377184051 0.00005
NM_000429.3(MAT1A):c.721G>A (p.Val241Ile) rs147356286 0.00005
NM_000429.3(MAT1A):c.976G>A (p.Glu326Lys) rs201707737 0.00005
NM_000429.3(MAT1A):c.*1100C>G rs749044598 0.00004
NM_000429.3(MAT1A):c.*1382G>A rs886047307 0.00004
NM_000429.3(MAT1A):c.*1691T>C rs1010939016 0.00004
NM_000429.3(MAT1A):c.360C>T (p.Cys120=) rs760413721 0.00004
NM_000429.3(MAT1A):c.361G>A (p.Val121Ile) rs545505182 0.00004
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912 0.00004
NM_000429.3(MAT1A):c.580G>A (p.Ala194Thr) rs148687668 0.00004
NM_000429.3(MAT1A):c.*1192C>G rs1267727435 0.00003
NM_000429.3(MAT1A):c.-23C>T rs767638556 0.00003
NM_000429.3(MAT1A):c.268A>G (p.Ile90Val) rs767250995 0.00003
NM_000429.3(MAT1A):c.745C>T (p.Arg249Trp) rs779094715 0.00003
NM_000429.3(MAT1A):c.925G>C (p.Gly309Arg) rs1034807701 0.00003
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.271G>A (p.Gly91Ser) rs1202204033 0.00002
NM_000429.3(MAT1A):c.642G>A (p.Thr214=) rs539772339 0.00002
NM_000429.3(MAT1A):c.769-13T>C rs778665724 0.00002
NM_000429.3(MAT1A):c.926G>A (p.Gly309Glu) rs138806118 0.00002
NM_000429.3(MAT1A):c.*1741T>C rs1841416133 0.00001
NM_000429.3(MAT1A):c.*968G>C rs1203818573 0.00001
NM_000429.3(MAT1A):c.1003T>C (p.Tyr335His) rs757912932 0.00001
NM_000429.3(MAT1A):c.1036C>A (p.Leu346Met) rs200157444 0.00001
NM_000429.3(MAT1A):c.1067G>A (p.Arg356Gln) rs138742870 0.00001
NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp) rs118204002 0.00001
NM_000429.3(MAT1A):c.178T>C (p.Cys60Arg) rs1409330704 0.00001
NM_000429.3(MAT1A):c.25T>C (p.Cys9Arg) rs530273395 0.00001
NM_000429.3(MAT1A):c.319C>G (p.Leu107Val) rs1064793166 0.00001
NM_000429.3(MAT1A):c.406-3C>T rs374316399 0.00001
NM_000429.3(MAT1A):c.418G>A (p.Gly140Ser) rs1177713014 0.00001
NM_000429.3(MAT1A):c.433G>A (p.Glu145Lys) rs867277108 0.00001
NM_000429.3(MAT1A):c.484G>A (p.Ala162Thr) rs1452386763 0.00001
NM_000429.3(MAT1A):c.505C>T (p.Arg169Cys) rs759930801 0.00001
NM_000429.3(MAT1A):c.511G>A (p.Gly171Ser) rs202159786 0.00001
NM_000429.3(MAT1A):c.521C>T (p.Pro174Leu) rs1053330044 0.00001
NM_000429.3(MAT1A):c.571G>A (p.Asp191Asn) rs2492489779 0.00001
NM_000429.3(MAT1A):c.610G>A (p.Val204Ile) rs780529010 0.00001
NM_000429.3(MAT1A):c.617C>T (p.Ser206Phe) rs1222154319 0.00001
NM_000429.3(MAT1A):c.655C>T (p.Arg219Cys) rs1038206403 0.00001
NM_000429.3(MAT1A):c.665T>G (p.Leu222Arg) rs1480103473 0.00001
NM_000429.3(MAT1A):c.697G>A (p.Ala233Thr) rs1050443258 0.00001
NM_000429.3(MAT1A):c.701A>C (p.Lys234Thr) rs1032054746 0.00001
NM_000429.3(MAT1A):c.757G>A (p.Gly253Arg) rs1589480590 0.00001
NM_000429.3(MAT1A):c.868G>A (p.Val290Ile) rs748896492 0.00001
NM_000429.3(MAT1A):c.875G>A (p.Arg292His) rs781774786 0.00001
NM_000429.3(MAT1A):c.91+6T>C rs532139579 0.00001
NM_000429.3(MAT1A):c.935G>A (p.Arg312Gln) rs1014911761 0.00001
NM_000429.3(MAT1A):c.951+6C>A rs2492486285 0.00001
NM_000429.3(MAT1A):c.952-5G>A rs1841457212 0.00001
NM_000429.3(MAT1A):c.968G>A (p.Gly323Asp) rs775897759 0.00001
NM_000429.3(MAT1A):c.*1021C>A rs886047310
NM_000429.3(MAT1A):c.*1078C>T rs886047308
NM_000429.3(MAT1A):c.*1661G>C rs1285105177
NM_000429.3(MAT1A):c.*1924C>T rs772763454
NM_000429.3(MAT1A):c.-66del rs367639318
NM_000429.3(MAT1A):c.-71_-66dup rs367639318
NM_000429.3(MAT1A):c.1021A>G (p.Thr341Ala)
NM_000429.3(MAT1A):c.1024G>C (p.Glu342Gln)
NM_000429.3(MAT1A):c.1046T>C (p.Val349Ala) rs2492485106
NM_000429.3(MAT1A):c.1070C>G (p.Pro357Arg)
NM_000429.3(MAT1A):c.155_156delinsTG (p.Ala52Val) rs2492507139
NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr) rs2492507135
NM_000429.3(MAT1A):c.181A>G (p.Lys61Glu) rs116443228
NM_000429.3(MAT1A):c.187G>A (p.Gly63Ser) rs770323371
NM_000429.3(MAT1A):c.220A>G (p.Met74Val) rs747815586
NM_000429.3(MAT1A):c.224C>A (p.Ala75Asp) rs2492504380
NM_000429.3(MAT1A):c.251G>A (p.Arg84Lys) rs2132708502
NM_000429.3(MAT1A):c.254A>G (p.Asp85Gly) rs1475134771
NM_000429.3(MAT1A):c.257C>T (p.Thr86Ile) rs1371341814
NM_000429.3(MAT1A):c.277G>T (p.Asp93Tyr) rs762357538
NM_000429.3(MAT1A):c.278A>G (p.Asp93Gly)
NM_000429.3(MAT1A):c.290A>C (p.Lys97Thr) rs1564647783
NM_000429.3(MAT1A):c.293-10T>G rs1194746964
NM_000429.3(MAT1A):c.293G>A (p.Gly98Asp) rs2132706282
NM_000429.3(MAT1A):c.300C>G (p.Asp100Glu) rs1841556570
NM_000429.3(MAT1A):c.303C>G (p.Phe101Leu) rs1317106884
NM_000429.3(MAT1A):c.311G>T (p.Cys104Phe) rs2492497331
NM_000429.3(MAT1A):c.315C>A (p.Asn105Lys) rs758289013
NM_000429.3(MAT1A):c.316G>A (p.Val106Met)
NM_000429.3(MAT1A):c.337C>G (p.Gln113Glu) rs1841555994
NM_000429.3(MAT1A):c.340T>G (p.Ser114Ala) rs761462996
NM_000429.3(MAT1A):c.341C>A (p.Ser114Tyr) rs2132706241
NM_000429.3(MAT1A):c.341C>T (p.Ser114Phe) rs2132706241
NM_000429.3(MAT1A):c.350T>C (p.Ile117Thr) rs1841555804
NM_000429.3(MAT1A):c.353C>G (p.Ala118Gly) rs1841555750
NM_000429.3(MAT1A):c.358T>C (p.Cys120Arg) rs1841555617
NM_000429.3(MAT1A):c.359G>A (p.Cys120Tyr) rs1589482236
NM_000429.3(MAT1A):c.35C>A (p.Ser12Tyr) rs1163983109
NM_000429.3(MAT1A):c.394G>T (p.Ala132Ser) rs774769057
NM_000429.3(MAT1A):c.395C>A (p.Ala132Glu) rs2492497119
NM_000429.3(MAT1A):c.397G>A (p.Gly133Arg)
NM_000429.3(MAT1A):c.398_400del (p.Gly133del)
NM_000429.3(MAT1A):c.412A>G (p.Met138Val) rs1469573925
NM_000429.3(MAT1A):c.422A>G (p.Tyr141Cys) rs1841547592
NM_000429.3(MAT1A):c.427A>T (p.Thr143Ser)
NM_000429.3(MAT1A):c.451C>A (p.Pro151Thr) rs2492496151
NM_000429.3(MAT1A):c.452C>T (p.Pro151Leu) rs1470971533
NM_000429.3(MAT1A):c.454C>A (p.Leu152Ile)
NM_000429.3(MAT1A):c.470C>T (p.Ala157Val) rs2492496123
NM_000429.3(MAT1A):c.475A>C (p.Lys159Gln) rs1368011064
NM_000429.3(MAT1A):c.492G>A (p.Met164Ile) rs1166215201
NM_000429.3(MAT1A):c.506G>A (p.Arg169His) rs766735917
NM_000429.3(MAT1A):c.508T>C (p.Ser170Pro) rs1421843313
NM_000429.3(MAT1A):c.527T>G (p.Leu176Arg)
NM_000429.3(MAT1A):c.530G>C (p.Arg177Pro) rs114494303
NM_000429.3(MAT1A):c.536A>T (p.Asp179Val) rs2492495891
NM_000429.3(MAT1A):c.545C>T (p.Thr182Ile) rs2492495865
NM_000429.3(MAT1A):c.547C>A (p.Gln183Lys) rs2492495862
NM_000429.3(MAT1A):c.550G>C (p.Val184Leu)
NM_000429.3(MAT1A):c.575A>G (p.Asn192Ser) rs2492489760
NM_000429.3(MAT1A):c.626A>T (p.His209Leu) rs1554840780
NM_000429.3(MAT1A):c.62C>T (p.Thr21Ile) rs2132712126
NM_000429.3(MAT1A):c.637A>G (p.Ile213Val) rs2492489517
NM_000429.3(MAT1A):c.646G>A (p.Glu216Lys)
NM_000429.3(MAT1A):c.646G>C (p.Glu216Gln) rs1564646038
NM_000429.3(MAT1A):c.656G>T (p.Arg219Leu) rs200894913
NM_000429.3(MAT1A):c.659G>A (p.Arg220Lys) rs1263207172
NM_000429.3(MAT1A):c.65C>T (p.Ser22Leu) rs1242659514
NM_000429.3(MAT1A):c.67G>C (p.Glu23Gln) rs2492512338
NM_000429.3(MAT1A):c.681C>G (p.Ile227Met) rs1841486729
NM_000429.3(MAT1A):c.683G>A (p.Arg228Lys) rs1346664920
NM_000429.3(MAT1A):c.68A>C (p.Glu23Ala)
NM_000429.3(MAT1A):c.691G>A (p.Val231Met) rs990656798
NM_000429.3(MAT1A):c.706C>A (p.Leu236Met)
NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) rs1131691739
NM_000429.3(MAT1A):c.755T>C (p.Ile252Thr) rs1355541304
NM_000429.3(MAT1A):c.760G>A (p.Gly254Ser) rs1841485508
NM_000429.3(MAT1A):c.769G>A (p.Gly257Arg) rs771192120
NM_000429.3(MAT1A):c.76G>A (p.Gly26Arg) rs1033430730
NM_000429.3(MAT1A):c.772G>A (p.Asp258Asn) rs1554840677
NM_000429.3(MAT1A):c.79G>A (p.Glu27Lys) rs2492512318
NM_000429.3(MAT1A):c.809C>T (p.Thr270Ile)
NM_000429.3(MAT1A):c.812A>G (p.Tyr271Cys) rs1841469345
NM_000429.3(MAT1A):c.821_822delinsCT (p.Trp274Ser)
NM_000429.3(MAT1A):c.822G>T (p.Trp274Cys) rs1366915768
NM_000429.3(MAT1A):c.836G>T (p.Gly279Val)
NM_000429.3(MAT1A):c.839G>C (p.Gly280Ala) rs1320353405
NM_000429.3(MAT1A):c.839G>T (p.Gly280Val) rs1320353405
NM_000429.3(MAT1A):c.841G>A (p.Ala281Thr) rs2492486655
NM_000429.3(MAT1A):c.866A>G (p.Lys289Arg) rs2492486581
NM_000429.3(MAT1A):c.887A>G (p.Tyr296Cys) rs2492486444
NM_000429.3(MAT1A):c.893C>T (p.Ala298Val)
NM_000429.3(MAT1A):c.89C>T (p.Pro30Leu) rs1295088064
NM_000429.3(MAT1A):c.90G>A (p.Pro30=)
NM_000429.3(MAT1A):c.951+4A>G rs1348613862
NM_000429.3(MAT1A):c.952-9T>C rs886047320
NM_000429.3(MAT1A):c.959A>C (p.Tyr320Ser) rs913573257
NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe) rs1057517759
NM_000429.3(MAT1A):c.965T>C (p.Ile322Thr) rs2492485397
NM_000429.3(MAT1A):c.983T>C (p.Leu328Pro) rs1444823004
NM_000429.3(MAT1A):c.98T>A (p.Ile33Asn) rs1554841293

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