ClinVar Miner

List of variants reported as uncertain significance for methionine adenosyltransferase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000429.3(MAT1A):c.*610G>C rs77083841 0.00388
NM_000429.3(MAT1A):c.*542C>T rs34493502 0.00339
NM_000429.3(MAT1A):c.*657C>T rs527968994 0.00128
NM_000429.3(MAT1A):c.*1029G>A rs886047309 0.00104
NM_000429.3(MAT1A):c.*211G>A rs183652762 0.00056
NM_000429.3(MAT1A):c.-72A>G rs200488580 0.00044
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.*99A>T rs1065766 0.00013
NM_000429.3(MAT1A):c.*545A>G rs560158878 0.00012
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.*68G>A rs980270209 0.00009
NM_000429.3(MAT1A):c.488G>A (p.Arg163Gln) rs752361383 0.00009
NM_000429.3(MAT1A):c.916G>C (p.Val306Leu) rs369601773 0.00008
NM_000429.3(MAT1A):c.*786A>T rs564845398 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.*1207T>C rs572585579 0.00006
NM_000429.3(MAT1A):c.*862C>T rs886047311 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.721G>A (p.Val241Ile) rs147356286 0.00006
NM_000429.3(MAT1A):c.*1382G>A rs886047307 0.00005
NM_000429.3(MAT1A):c.*523T>C rs886047315 0.00005
NM_000429.3(MAT1A):c.11C>T (p.Pro4Leu) rs546790330 0.00005
NM_000429.3(MAT1A):c.242G>A (p.Arg81Gln) rs199600641 0.00005
NM_000429.3(MAT1A):c.631G>A (p.Glu211Lys) rs377184051 0.00005
NM_000429.3(MAT1A):c.*1100C>G rs749044598 0.00004
NM_000429.3(MAT1A):c.*1691T>C rs1010939016 0.00004
NM_000429.3(MAT1A):c.*414C>G rs886047316 0.00004
NM_000429.3(MAT1A):c.*727T>C rs886047314 0.00004
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) rs750570720 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.*668G>A rs867012184 0.00003
NM_000429.3(MAT1A):c.-23C>T rs767638556 0.00003
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.*736G>A rs530670748 0.00002
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.642G>A (p.Thr214=) rs539772339 0.00002
NM_000429.3(MAT1A):c.769-13T>C rs778665724 0.00002
NM_000429.3(MAT1A):c.*1058T>C rs563243686 0.00001
NM_000429.3(MAT1A):c.*121C>G rs886047318 0.00001
NM_000429.3(MAT1A):c.*1741T>C rs1841416133 0.00001
NM_000429.3(MAT1A):c.*4C>G rs1353280208 0.00001
NM_000429.3(MAT1A):c.*553T>C rs558345547 0.00001
NM_000429.3(MAT1A):c.*831T>C rs74625274 0.00001
NM_000429.3(MAT1A):c.*968G>C rs1203818573 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.268A>G (p.Ile90Val) rs767250995 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.484G>A (p.Ala162Thr) rs1452386763 0.00001
NM_000429.3(MAT1A):c.511G>A (p.Gly171Ser) rs202159786 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.757G>A (p.Gly253Arg) rs1589480590 0.00001
NM_000429.3(MAT1A):c.875G>A (p.Arg292His) rs781774786 0.00001
NM_000429.3(MAT1A):c.*1021C>A rs886047310
NM_000429.3(MAT1A):c.*1078C>T rs886047308
NM_000429.3(MAT1A):c.*149T>C rs886047317
NM_000429.3(MAT1A):c.*1661G>C rs1285105177
NM_000429.3(MAT1A):c.*1924C>T rs772763454
NM_000429.3(MAT1A):c.*428G>T rs766915369
NM_000429.3(MAT1A):c.*604T>C rs1841432489
NM_000429.3(MAT1A):c.*730C>T rs886047313
NM_000429.3(MAT1A):c.*747C>T rs886047312
NM_000429.3(MAT1A):c.*84C>T rs886047319
NM_000429.3(MAT1A):c.-66del rs367639318
NM_000429.3(MAT1A):c.-71_-66dup rs367639318
NM_000429.3(MAT1A):c.-73_-72insGAAAAAA rs145126070
NM_000429.3(MAT1A):c.-75G>A rs74815121
NM_000429.3(MAT1A):c.-90GAA[7] rs10694757
NM_000429.3(MAT1A):c.-90GAA[9] rs10694757
NM_000429.3(MAT1A):c.1003T>C (p.Tyr335His)
NM_000429.3(MAT1A):c.1046T>C (p.Val349Ala)
NM_000429.3(MAT1A):c.1067G>A (p.Arg356Gln)
NM_000429.3(MAT1A):c.1086-1G>T
NM_000429.3(MAT1A):c.1150G>A (p.Glu384Lys)
NM_000429.3(MAT1A):c.1169C>A (p.Pro390His)
NM_000429.3(MAT1A):c.1181T>C (p.Val394Ala)
NM_000429.3(MAT1A):c.155_156delinsTG (p.Ala52Val)
NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr)
NM_000429.3(MAT1A):c.178T>C (p.Cys60Arg)
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)
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.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+17G>A
NM_000429.3(MAT1A):c.293-10T>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>A (p.Asn105Lys)
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.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.394G>T (p.Ala132Ser) rs774769057
NM_000429.3(MAT1A):c.395C>A (p.Ala132Glu)
NM_000429.3(MAT1A):c.412A>G (p.Met138Val) rs1469573925
NM_000429.3(MAT1A):c.418G>A (p.Gly140Ser)
NM_000429.3(MAT1A):c.422A>G (p.Tyr141Cys)
NM_000429.3(MAT1A):c.433G>A (p.Glu145Lys)
NM_000429.3(MAT1A):c.451C>A (p.Pro151Thr)
NM_000429.3(MAT1A):c.452C>T (p.Pro151Leu) rs1470971533
NM_000429.3(MAT1A):c.470C>T (p.Ala157Val)
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.571G>A (p.Asp191Asn)
NM_000429.3(MAT1A):c.575A>G (p.Asn192Ser)
NM_000429.3(MAT1A):c.592G>A (p.Val198Met)
NM_000429.3(MAT1A):c.626A>T (p.His209Leu) rs1554840780
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.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.691G>A (p.Val231Met)
NM_000429.3(MAT1A):c.697G>A (p.Ala233Thr)
NM_000429.3(MAT1A):c.701A>C (p.Lys234Thr)
NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) rs1131691739
NM_000429.3(MAT1A):c.755T>C (p.Ile252Thr)
NM_000429.3(MAT1A):c.760G>A (p.Gly254Ser) rs1841485508
NM_000429.3(MAT1A):c.769G>A (p.Gly257Arg)
NM_000429.3(MAT1A):c.76G>A (p.Gly26Arg)
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.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.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.866A>G (p.Lys289Arg)
NM_000429.3(MAT1A):c.868G>A (p.Val290Ile)
NM_000429.3(MAT1A):c.887A>G (p.Tyr296Cys)
NM_000429.3(MAT1A):c.89C>T (p.Pro30Leu)
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.951+4A>G
NM_000429.3(MAT1A):c.951+6C>A
NM_000429.3(MAT1A):c.952-5G>A
NM_000429.3(MAT1A):c.952-9T>C rs886047320
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.