ClinVar Miner

List of variants studied for methionine adenosyltransferase deficiency by Invitae

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP
NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) rs118204003
NM_000429.3(MAT1A):c.174A>G (p.Thr58=) rs146794319
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) rs750570720
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.529C>T (p.Arg177Trp) rs376757912
NM_000429.3(MAT1A):c.626A>T (p.His209Leu) rs1554840780
NM_000429.3(MAT1A):c.646G>C (p.Glu216Gln) rs1564646038
NM_000429.3(MAT1A):c.656G>T (p.Arg219Leu)
NM_000429.3(MAT1A):c.696G>A (p.Pro232=) rs139423514
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.885A>T (p.Ala295=) rs17851642
NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe) rs1057517759
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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