ClinVar Miner

List of variants reported as uncertain significance for Hepatic methionine adenosyltransferase deficiency by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 64
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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.*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.*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.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.*1382G>A rs886047307 0.00005
NM_000429.3(MAT1A):c.*523T>C rs886047315 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.*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.*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.484G>A (p.Ala162Thr) rs1452386763 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.952-9T>C rs886047320

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