ClinVar Miner

List of variants in gene DDC reported as pathogenic for aromatic L-amino acid decarboxylase deficiency

Included ClinVar conditions (1):
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.714+4A>T rs200362242 0.00005
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) rs137853211 0.00004
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) rs137853212 0.00003
NM_001082971.2(DDC):c.206C>T (p.Thr69Met) rs777956037 0.00002
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) rs746244631 0.00002
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) rs971183744 0.00002
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp) rs542063660 0.00001
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) rs142110773 0.00001
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser) rs137853207 0.00001
NM_001082971.2(DDC):c.82C>T (p.Gln28Ter) rs755511752 0.00001
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) rs886062372 0.00001
NC_000007.13:g.(?_50563038)_(50563125_?)del
NC_000007.13:g.(?_50571671)_(50571777_?)del
NC_000007.13:g.(?_50605538)_(50611783_?)del
NM_000790.4(DDC):c.316del rs1364054304
NM_001082971.2(DDC):c.1013_1016dup (p.Asp339fs)
NM_001082971.2(DDC):c.1055del (p.Pro352fs) rs2042497215
NM_001082971.2(DDC):c.1107T>A (p.Tyr369Ter)
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter) rs777681757
NM_001082971.2(DDC):c.1228T>G (p.Cys410Gly) rs2042419194
NM_001082971.2(DDC):c.1233del (p.Arg412fs) rs1344017069
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
NM_001082971.2(DDC):c.128del (p.Pro43fs)
NM_001082971.2(DDC):c.1297dup (p.Ile433fs) rs760629324
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001082971.2(DDC):c.1340G>A (p.Arg447His)
NM_001082971.2(DDC):c.1385G>C (p.Arg462Pro)
NM_001082971.2(DDC):c.140C>A (p.Pro47His)
NM_001082971.2(DDC):c.175G>A (p.Asp59Asn) rs931702374
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter) rs138828136
NM_001082971.2(DDC):c.201+5G>C rs2044715580
NM_001082971.2(DDC):c.254C>A (p.Ser85Ter)
NM_001082971.2(DDC):c.362G>A (p.Trp121Ter)
NM_001082971.2(DDC):c.439A>C (p.Ser147Arg) rs137853210
NM_001082971.2(DDC):c.480del (p.Thr161fs) rs2044130662
NM_001082971.2(DDC):c.48_49delinsAG (p.Tyr16_Met17delinsTer) rs2153550461
NM_001082971.2(DDC):c.526C>T (p.Gln176Ter) rs773004040
NM_001082971.2(DDC):c.564_568dup (p.Gln190fs) rs2044127544
NM_001082971.2(DDC):c.568C>T (p.Gln190Ter) rs2153545926
NM_001082971.2(DDC):c.665T>C (p.Leu222Pro)
NM_001082971.2(DDC):c.749C>T (p.Ser250Phe) rs137853208
NM_001082971.2(DDC):c.764T>A (p.Leu255Ter)
NM_001082971.2(DDC):c.801G>A (p.Trp267Ter)
NM_001082971.2(DDC):c.867_871TGGAG[1] (p.Glu292fs)
NM_001082971.2(DDC):c.925T>C (p.Phe309Leu) rs137853209
NM_001082971.2(DDC):c.995A>G (p.Tyr332Cys) rs2153536214
NM_001242889.2(DDC):c.435+8518_435+8519del

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