ClinVar Miner

List of variants studied for methionine adenosyltransferase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 226
Download table as spreadsheet
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.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.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.1086-19C>T rs200191278 0.00011
NM_000429.3(MAT1A):c.641C>T (p.Thr214Met) rs754347805 0.00011
NM_000429.3(MAT1A):c.488G>A (p.Arg163Gln) rs752361383 0.00009
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.326C>T (p.Ala109Val) rs750359732 0.00007
NM_000429.3(MAT1A):c.816C>T (p.Gly272=) rs751778923 0.00007
NM_000429.3(MAT1A):c.1140C>T (p.Phe380=) rs368336046 0.00006
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.721G>A (p.Val241Ile) rs147356286 0.00006
NM_000429.3(MAT1A):c.11C>T (p.Pro4Leu) rs546790330 0.00005
NM_000429.3(MAT1A):c.631G>A (p.Glu211Lys) rs377184051 0.00005
NM_000429.3(MAT1A):c.1026G>A (p.Glu342=) rs760038479 0.00004
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) rs750570720 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.580G>A (p.Ala194Thr) rs148687668 0.00004
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912 0.00003
NM_000429.3(MAT1A):c.745C>T (p.Arg249Trp) rs779094715 0.00003
NM_000429.3(MAT1A):c.763C>T (p.Pro255Ser) rs913435613 0.00003
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) rs376993881 0.00003
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=) rs777896485 0.00002
NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) rs118204003 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.896G>A (p.Arg299His) rs373792557 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.1036C>A (p.Leu346Met) rs200157444 0.00001
NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp) rs118204002 0.00001
NM_000429.3(MAT1A):c.186C>T (p.Thr62=) rs568227561 0.00001
NM_000429.3(MAT1A):c.268A>G (p.Ile90Val) rs767250995 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.319C>G (p.Leu107Val) rs1064793166 0.00001
NM_000429.3(MAT1A):c.406-3C>T rs374316399 0.00001
NM_000429.3(MAT1A):c.406-8C>T rs201439535 0.00001
NM_000429.3(MAT1A):c.511G>A (p.Gly171Ser) rs202159786 0.00001
NM_000429.3(MAT1A):c.538_539insTG (p.Ser180fs) rs944263459 0.00001
NM_000429.3(MAT1A):c.546T>C (p.Thr182=) rs1158815802 0.00001
NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys) rs773267230 0.00001
NM_000429.3(MAT1A):c.596G>A (p.Arg199His) rs144099376 0.00001
NM_000429.3(MAT1A):c.609C>T (p.Ile203=) rs748120797 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.66G>A (p.Ser22=) rs114062313 0.00001
NM_000429.3(MAT1A):c.687C>T (p.Ala229=) rs145297890 0.00001
NM_000429.3(MAT1A):c.757G>A (p.Gly253Arg) rs1589480590 0.00001
NM_000429.3(MAT1A):c.875G>A (p.Arg292His) rs781774786 0.00001
NM_000429.3(MAT1A):c.966T>G (p.Ile322Met) rs118204001 0.00001
NC_000010.11:g.80275200del
NM_000429.3(MAT1A):c.1041T>C (p.Asp347=)
NM_000429.3(MAT1A):c.1042del (p.Val348fs)
NM_000429.3(MAT1A):c.1062C>T (p.Asp354=)
NM_000429.3(MAT1A):c.1066C>T (p.Arg356Trp) rs116659053
NM_000429.3(MAT1A):c.1083C>T (p.Val361=)
NM_000429.3(MAT1A):c.1086-13G>A
NM_000429.3(MAT1A):c.1086-1G>T
NM_000429.3(MAT1A):c.110T>C (p.Ile37Thr)
NM_000429.3(MAT1A):c.1150G>A (p.Glu384Lys)
NM_000429.3(MAT1A):c.1152G>A (p.Glu384=)
NM_000429.3(MAT1A):c.1181T>C (p.Val394Ala)
NM_000429.3(MAT1A):c.125_131del (p.Leu42fs)
NM_000429.3(MAT1A):c.155_156delinsTG (p.Ala52Val)
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.181A>G (p.Lys61Glu) rs116443228
NM_000429.3(MAT1A):c.187G>A (p.Gly63Ser) rs770323371
NM_000429.3(MAT1A):c.198G>A (p.Leu66=)
NM_000429.3(MAT1A):c.21C>G (p.Gly7=)
NM_000429.3(MAT1A):c.220A>G (p.Met74Val)
NM_000429.3(MAT1A):c.224C>A (p.Ala75Asp)
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.25T>C (p.Cys9Arg)
NM_000429.3(MAT1A):c.260T>A (p.Ile87Asn)
NM_000429.3(MAT1A):c.271G>A (p.Gly91Ser)
NM_000429.3(MAT1A):c.277G>T (p.Asp93Tyr) rs762357538
NM_000429.3(MAT1A):c.290A>C (p.Lys97Thr) rs1564647783
NM_000429.3(MAT1A):c.292+16C>T
NM_000429.3(MAT1A):c.292+17G>A
NM_000429.3(MAT1A):c.293-10T>G
NM_000429.3(MAT1A):c.293-2A>G
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)
NM_000429.3(MAT1A):c.311G>T (p.Cys104Phe)
NM_000429.3(MAT1A):c.315C>T (p.Asn105=)
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)
NM_000429.3(MAT1A):c.350T>C (p.Ile117Thr) rs1841555804
NM_000429.3(MAT1A):c.353C>G (p.Ala118Gly)
NM_000429.3(MAT1A):c.355C>T (p.Gln119Ter)
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)
NM_000429.3(MAT1A):c.360C>T (p.Cys120=)
NM_000429.3(MAT1A):c.361G>A (p.Val121Ile)
NM_000429.3(MAT1A):c.390G>C (p.Val130=)
NM_000429.3(MAT1A):c.390G>T (p.Val130=)
NM_000429.3(MAT1A):c.394G>T (p.Ala132Ser) rs774769057
NM_000429.3(MAT1A):c.395C>A (p.Ala132Glu)
NM_000429.3(MAT1A):c.405+8G>A
NM_000429.3(MAT1A):c.412A>G (p.Met138Val) rs1469573925
NM_000429.3(MAT1A):c.417C>T (p.Phe139=)
NM_000429.3(MAT1A):c.418G>A (p.Gly140Ser)
NM_000429.3(MAT1A):c.422A>G (p.Tyr141Cys)
NM_000429.3(MAT1A):c.432C>T (p.Asp144=)
NM_000429.3(MAT1A):c.433G>A (p.Glu145Lys)
NM_000429.3(MAT1A):c.452C>T (p.Pro151Leu) rs1470971533
NM_000429.3(MAT1A):c.475A>C (p.Lys159Gln)
NM_000429.3(MAT1A):c.492G>A (p.Met164Ile)
NM_000429.3(MAT1A):c.505C>T (p.Arg169Cys)
NM_000429.3(MAT1A):c.506G>A (p.Arg169His) rs766735917
NM_000429.3(MAT1A):c.508T>C (p.Ser170Pro)
NM_000429.3(MAT1A):c.521C>T (p.Pro174Leu)
NM_000429.3(MAT1A):c.530G>C (p.Arg177Pro)
NM_000429.3(MAT1A):c.536A>T (p.Asp179Val)
NM_000429.3(MAT1A):c.545C>T (p.Thr182Ile)
NM_000429.3(MAT1A):c.547C>A (p.Gln183Lys)
NM_000429.3(MAT1A):c.550-9G>C rs1589480725
NM_000429.3(MAT1A):c.571G>A (p.Asp191Asn)
NM_000429.3(MAT1A):c.575A>G (p.Asn192Ser)
NM_000429.3(MAT1A):c.588C>T (p.Ile196=)
NM_000429.3(MAT1A):c.592G>A (p.Val198Met)
NM_000429.3(MAT1A):c.626A>T (p.His209Leu) rs1554840780
NM_000429.3(MAT1A):c.630C>T (p.Asn210=)
NM_000429.3(MAT1A):c.637A>G (p.Ile213Val)
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)
NM_000429.3(MAT1A):c.65C>T (p.Ser22Leu)
NM_000429.3(MAT1A):c.665T>G (p.Leu222Arg)
NM_000429.3(MAT1A):c.66G>C (p.Ser22=)
NM_000429.3(MAT1A):c.67G>C (p.Glu23Gln)
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.697G>A (p.Ala233Thr)
NM_000429.3(MAT1A):c.701A>C (p.Lys234Thr)
NM_000429.3(MAT1A):c.705C>A (p.Tyr235Ter)
NM_000429.3(MAT1A):c.711C>T (p.Asp237=)
NM_000429.3(MAT1A):c.720C>T (p.Thr240=)
NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) rs1131691739
NM_000429.3(MAT1A):c.741T>C (p.Ser247=) rs2132702574
NM_000429.3(MAT1A):c.755T>C (p.Ile252Thr)
NM_000429.3(MAT1A):c.760G>A (p.Gly254Ser) rs1841485508
NM_000429.3(MAT1A):c.768+10T>G
NM_000429.3(MAT1A):c.768+20C>T
NM_000429.3(MAT1A):c.768+2T>A
NM_000429.3(MAT1A):c.769-7T>C
NM_000429.3(MAT1A):c.769G>A (p.Gly257Arg)
NM_000429.3(MAT1A):c.771G>T (p.Gly257=) rs778011816
NM_000429.3(MAT1A):c.772G>A (p.Asp258Asn) rs1554840677
NM_000429.3(MAT1A):c.772G>T (p.Asp258Tyr) rs1554840677
NM_000429.3(MAT1A):c.773A>T (p.Asp258Val) rs1241692940
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) rs138556525
NM_000429.3(MAT1A):c.790C>T (p.Arg264Cys) rs118204005
NM_000429.3(MAT1A):c.791G>A (p.Arg264His) rs72558181
NM_000429.3(MAT1A):c.79G>A (p.Glu27Lys)
NM_000429.3(MAT1A):c.812A>G (p.Tyr271Cys) rs1841469345
NM_000429.3(MAT1A):c.822G>T (p.Trp274Cys) rs1366915768
NM_000429.3(MAT1A):c.829C>T (p.His277Tyr)
NM_000429.3(MAT1A):c.839G>C (p.Gly280Ala) rs1320353405
NM_000429.3(MAT1A):c.839G>T (p.Gly280Val)
NM_000429.3(MAT1A):c.841G>A (p.Ala281Thr)
NM_000429.3(MAT1A):c.852G>A (p.Gly284=)
NM_000429.3(MAT1A):c.866A>G (p.Lys289Arg)
NM_000429.3(MAT1A):c.867G>A (p.Lys289=)
NM_000429.3(MAT1A):c.868G>A (p.Val290Ile)
NM_000429.3(MAT1A):c.874C>T (p.Arg292Cys)
NM_000429.3(MAT1A):c.89C>T (p.Pro30Leu)
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.92-2A>C rs1841639385
NM_000429.3(MAT1A):c.925G>C (p.Gly309Arg)
NM_000429.3(MAT1A):c.926G>A (p.Gly309Glu)
NM_000429.3(MAT1A):c.935G>A (p.Arg312Gln)
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.951+4A>G
NM_000429.3(MAT1A):c.951+6C>A
NM_000429.3(MAT1A):c.952-18G>A
NM_000429.3(MAT1A):c.952-19C>T
NM_000429.3(MAT1A):c.952-5G>A
NM_000429.3(MAT1A):c.959A>C (p.Tyr320Ser)
NM_000429.3(MAT1A):c.964A>G (p.Ile322Val)
NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe) rs1057517759
NM_000429.3(MAT1A):c.965T>C (p.Ile322Thr)
NM_000429.3(MAT1A):c.968G>A (p.Gly323Asp) rs775897759
NM_000429.3(MAT1A):c.976G>A (p.Glu326Lys)
NM_000429.3(MAT1A):c.983T>C (p.Leu328Pro) rs1444823004
NM_000429.3(MAT1A):c.98T>A (p.Ile33Asn) rs1554841293

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.