ClinVar Miner

List of variants reported as uncertain significance for Hepatic methionine adenosyltransferase deficiency by Invitae

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Total variants: 116
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HGVS dbSNP gnomAD frequency
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.326C>T (p.Ala109Val) rs750359732 0.00007
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.241C>T (p.Arg81Trp) rs750570720 0.00004
NM_000429.3(MAT1A):c.580G>A (p.Ala194Thr) rs148687668 0.00004
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.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.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.1086-1G>T
NM_000429.3(MAT1A):c.1150G>A (p.Glu384Lys)
NM_000429.3(MAT1A):c.1181T>C (p.Val394Ala)
NM_000429.3(MAT1A):c.155_156delinsTG (p.Ala52Val)
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>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.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.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.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.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.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.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

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