ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of aromatic-L-amino-acid decarboxylase

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Total variants: 11
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HGVS dbSNP
NM_001082971.2(DDC):c.1042-2A>G rs1276093487
NM_001082971.2(DDC):c.1073G>A (p.Arg358His) rs771317809
NM_001082971.2(DDC):c.1352G>T (p.Cys451Phe) rs1554411234
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) rs142110773
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) rs137853211
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)
NM_001082971.2(DDC):c.440G>T (p.Ser147Ile) rs1585237892
NM_001082971.2(DDC):c.571-2A>G
NM_001082971.2(DDC):c.571-3C>G rs779659084
NM_001082971.2(DDC):c.945-1G>C

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