ClinVar Miner

List of variants in gene MAT1A studied for methionine adenosyltransferase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
MAT1A, 1-BP INS, 827G
MAT1A, 2-BP DEL, 1043TG
MAT1A, 2-BP INS, 539TG
NM_000429.3(MAT1A):c.*1021C>A rs886047310
NM_000429.3(MAT1A):c.*1029G>A rs886047309
NM_000429.3(MAT1A):c.*1058T>C rs563243686
NM_000429.3(MAT1A):c.*1078C>T rs886047308
NM_000429.3(MAT1A):c.*1092C>G rs41284062
NM_000429.3(MAT1A):c.*1206G>A rs1832683
NM_000429.3(MAT1A):c.*121C>G rs886047318
NM_000429.3(MAT1A):c.*1268T>C rs146819443
NM_000429.3(MAT1A):c.*1292G>C rs58141836
NM_000429.3(MAT1A):c.*1297T>C rs1985908
NM_000429.3(MAT1A):c.*1382G>A rs886047307
NM_000429.3(MAT1A):c.*149T>C rs886047317
NM_000429.3(MAT1A):c.*1599_*1600insTTCAGGCTGG rs145159688
NM_000429.3(MAT1A):c.*1924C>T rs772763454
NM_000429.3(MAT1A):c.*299G>A rs7097297
NM_000429.3(MAT1A):c.*414C>G rs886047316
NM_000429.3(MAT1A):c.*523T>C rs886047315
NM_000429.3(MAT1A):c.*529G>A rs10509413
NM_000429.3(MAT1A):c.*569C>G rs78720701
NM_000429.3(MAT1A):c.*657C>T rs527968994
NM_000429.3(MAT1A):c.*668G>A rs867012184
NM_000429.3(MAT1A):c.*67C>T rs7087728
NM_000429.3(MAT1A):c.*727T>C rs886047314
NM_000429.3(MAT1A):c.*730C>T rs886047313
NM_000429.3(MAT1A):c.*736G>A rs530670748
NM_000429.3(MAT1A):c.*747C>T rs886047312
NM_000429.3(MAT1A):c.*786A>T rs564845398
NM_000429.3(MAT1A):c.*84C>T rs886047319
NM_000429.3(MAT1A):c.*862C>T rs886047311
NM_000429.3(MAT1A):c.*863G>A rs41284064
NM_000429.3(MAT1A):c.*982A>T rs1934144
NM_000429.3(MAT1A):c.*995del rs5786439
NM_000429.3(MAT1A):c.*99A>T rs1065766
NM_000429.3(MAT1A):c.-23C>T rs767638556
NM_000429.3(MAT1A):c.-63C>T rs886047321
NM_000429.3(MAT1A):c.-66del rs367639318
NM_000429.3(MAT1A):c.1006G>A (p.Gly336Arg) rs118204006
NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) rs118204003
NM_000429.3(MAT1A):c.1085+14C>T rs2994388
NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=) rs2993763
NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp) rs118204002
NM_000429.3(MAT1A):c.170-12G>A rs200462189
NM_000429.3(MAT1A):c.227T>C (p.Met76Thr) rs572741145
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) rs750570720
NM_000429.3(MAT1A):c.242G>A (p.Arg81Gln) rs199600641
NM_000429.3(MAT1A):c.277G>T (p.Asp93Tyr)
NM_000429.3(MAT1A):c.290A>C (p.Lys97Thr) rs1564647783
NM_000429.3(MAT1A):c.319C>G (p.Leu107Val) rs1064793166
NM_000429.3(MAT1A):c.340T>G (p.Ser114Ala) rs761462996
NM_000429.3(MAT1A):c.426T>C (p.Ala142=) rs1143694
NM_000429.3(MAT1A):c.488G>A (p.Arg163Gln) rs752361383
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912
NM_000429.3(MAT1A):c.550-5G>A rs761943871
NM_000429.3(MAT1A):c.626A>T (p.His209Leu) rs1554840780
NM_000429.3(MAT1A):c.642G>A (p.Thr214=) rs539772339
NM_000429.3(MAT1A):c.646G>C (p.Glu216Gln) rs1564646038
NM_000429.3(MAT1A):c.656G>T (p.Arg219Leu)
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys) rs116528173
NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) rs1131691739
NM_000429.3(MAT1A):c.745C>T (p.Arg249Trp)
NM_000429.3(MAT1A):c.757G>A (p.Gly253Arg)
NM_000429.3(MAT1A):c.772G>A (p.Asp258Asn) rs1554840677
NM_000429.3(MAT1A):c.772G>T (p.Asp258Tyr)
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.822G>T (p.Trp274Cys)
NM_000429.3(MAT1A):c.870A>G (p.Val290=) rs10788546
NM_000429.3(MAT1A):c.882T>C (p.Ala294=) rs10887711
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) rs376993881
NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro) rs118204004
NM_000429.3(MAT1A):c.916G>C (p.Val306Leu) rs369601773
NM_000429.3(MAT1A):c.92-9C>G rs10887721
NM_000429.3(MAT1A):c.952-9T>C rs886047320
NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe) rs1057517759
NM_000429.3(MAT1A):c.966T>G (p.Ile322Met) rs118204001
NM_000429.3(MAT1A):c.981G>A (p.Pro327=) rs149163315
NM_000429.3(MAT1A):c.983T>C (p.Leu328Pro) rs1444823004
NM_000429.3(MAT1A):c.98T>A (p.Ile33Asn) rs1554841293

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