List of variants reported as likely pathogenic for aromatic L-amino acid decarboxylase deficiency by Invitae

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)	rs1285477390	0.00004
NM_001082971.2(DDC):c.1073G>A (p.Arg358His)	rs771317809	0.00001
NM_001082971.2(DDC):c.201+1G>C	rs1450673278	0.00001
NM_001082971.2(DDC):c.367G>A (p.Gly123Arg)	rs768596169	0.00001
NM_001082971.2(DDC):c.73G>A (p.Glu25Lys)	rs756869400	0.00001
NM_001082971.2(DDC):c.876G>A (p.Glu292=)	rs1237793828	0.00001
NM_001082971.2(DDC):c.1022-1G>A
NM_001082971.2(DDC):c.1041+1G>A
NM_001082971.2(DDC):c.1041+1G>C	rs1209062363
NM_001082971.2(DDC):c.1042-2A>G	rs1276093487
NM_001082971.2(DDC):c.116G>C (p.Arg39Pro)	rs376647978
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001082971.2(DDC):c.299G>C (p.Cys100Ser)
NM_001082971.2(DDC):c.367G>C (p.Gly123Arg)
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp)	rs886062374
NM_001082971.2(DDC):c.782-2A>T
NM_001082971.2(DDC):c.876+1G>T
NM_001082971.2(DDC):c.876+2T>G	rs915727399

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