ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.715A>T (p.Met239Leu) rs11575376 0.00069
NM_001082971.2(DDC):c.435+6G>T rs373041067 0.00046
NM_001082971.2(DDC):c.*36G>C rs187404471 0.00039
NM_001082971.2(DDC):c.1361C>T (p.Thr454Met) rs147562019 0.00025
NM_001082971.2(DDC):c.808G>A (p.Val270Ile) rs150447169 0.00017
NM_001082971.2(DDC):c.854G>A (p.Arg285Gln) rs573103547 0.00016
NM_001082971.2(DDC):c.366C>T (p.Leu122=) rs377528325 0.00014
NM_001082971.2(DDC):c.-29+4264G>A rs886062377 0.00013
NM_001082971.2(DDC):c.1426C>T (p.Arg476Ter) rs148472208 0.00010
NM_001082971.2(DDC):c.1181A>G (p.Gln394Arg) rs200295408 0.00009
NM_001082971.2(DDC):c.1296A>T (p.Lys432Asn) rs199872159 0.00009
NM_001082971.2(DDC):c.20G>A (p.Arg7Gln) rs200792455 0.00009
NM_001082971.2(DDC):c.202-3C>T rs199573720 0.00007
NM_001082971.2(DDC):c.121C>A (p.Leu41Met) rs748932346 0.00006
NM_001082971.2(DDC):c.135T>C (p.Ala45=) rs11575291 0.00006
NM_001082971.2(DDC):c.1412C>T (p.Ala471Val) rs752911552 0.00006
NM_001082971.2(DDC):c.315+11G>A rs753275419 0.00006
NM_001082971.2(DDC):c.565G>C (p.Asp189His) rs539762148 0.00006
NM_001082971.2(DDC):c.816A>C (p.Ala272=) rs767990522 0.00006
NM_001082971.2(DDC):c.1136G>A (p.Arg379His) rs147937771 0.00005
NM_001082971.2(DDC):c.1044T>C (p.His348=) rs527805112 0.00004
NM_001082971.2(DDC):c.119C>T (p.Pro40Leu) rs778431076 0.00004
NM_001082971.2(DDC):c.1392G>C (p.Trp464Cys) rs372970018 0.00004
NM_001082971.2(DDC):c.178G>A (p.Val60Ile) rs142925706 0.00004
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) rs137853211 0.00004
NM_001082971.2(DDC):c.316-6C>T rs377474761 0.00004
NM_001082971.2(DDC):c.822C>T (p.Tyr274=) rs746729797 0.00004
NM_001082971.2(DDC):c.968C>T (p.Thr323Met) rs140562157 0.00004
NM_001082971.2(DDC):c.*116T>G rs886062370 0.00003
NM_001082971.2(DDC):c.1041+5G>A rs1006854027 0.00003
NM_001082971.2(DDC):c.1190G>A (p.Arg397His) rs144293557 0.00003
NM_001082971.2(DDC):c.232G>T (p.Ala78Ser) rs140276979 0.00003
NM_001082971.2(DDC):c.6C>T (p.Asn2=) rs749246611 0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) rs137853212 0.00003
NM_001082971.2(DDC):c.85G>A (p.Val29Ile) rs780962952 0.00003
NM_001082971.2(DDC):c.206C>T (p.Thr69Met) rs777956037 0.00002
NM_001082971.2(DDC):c.265A>G (p.Met89Val) rs886062376 0.00002
NM_001082971.2(DDC):c.424G>A (p.Gly142Arg) rs757220196 0.00002
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) rs971183744 0.00002
NM_001082971.2(DDC):c.476C>T (p.Ala159Val) rs201828034 0.00002
NM_001082971.2(DDC):c.586G>A (p.Glu196Lys) rs368618312 0.00002
NM_001082971.2(DDC):c.739A>G (p.Thr247Ala) rs754766575 0.00002
NM_001082971.2(DDC):c.7G>A (p.Ala3Thr) rs766408460 0.00002
NM_001082971.2(DDC):c.*155C>T rs886062369 0.00001
NM_001082971.2(DDC):c.-29+4222C>T rs539605396 0.00001
NM_001082971.2(DDC):c.1009C>T (p.His337Tyr) rs751531676 0.00001
NM_001082971.2(DDC):c.1041+6T>C rs1218896783 0.00001
NM_001082971.2(DDC):c.1106A>G (p.Tyr369Cys) rs886062371 0.00001
NM_001082971.2(DDC):c.1132A>G (p.Ile378Val) rs755858178 0.00001
NM_001082971.2(DDC):c.1135C>T (p.Arg379Cys) rs201783949 0.00001
NM_001082971.2(DDC):c.1177C>T (p.Arg393Cys) rs375309190 0.00001
NM_001082971.2(DDC):c.1178G>A (p.Arg393His) rs752108612 0.00001
NM_001082971.2(DDC):c.1218G>A (p.Leu406=) rs746737558 0.00001
NM_001082971.2(DDC):c.1235G>A (p.Arg412Gln) rs756907276 0.00001
NM_001082971.2(DDC):c.1307T>C (p.Val436Ala) rs753862164 0.00001
NM_001082971.2(DDC):c.1384C>T (p.Arg462Trp) rs746158022 0.00001
NM_001082971.2(DDC):c.1417G>A (p.Asp473Asn) rs759389542 0.00001
NM_001082971.2(DDC):c.1427G>A (p.Arg476Gln) rs769418481 0.00001
NM_001082971.2(DDC):c.1437G>T (p.Arg479Ser) rs2042321931 0.00001
NM_001082971.2(DDC):c.200G>A (p.Gly67Glu) rs147802058 0.00001
NM_001082971.2(DDC):c.221C>T (p.Pro74Leu) rs1045841207 0.00001
NM_001082971.2(DDC):c.224A>T (p.Tyr75Phe) rs754791023 0.00001
NM_001082971.2(DDC):c.268C>G (p.Leu90Val) rs771493217 0.00001
NM_001082971.2(DDC):c.317C>T (p.Ala106Val) rs752272988 0.00001
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg) rs371117662 0.00001
NM_001082971.2(DDC):c.526C>A (p.Gln176Lys) rs773004040 0.00001
NM_001082971.2(DDC):c.527A>G (p.Gln176Arg) rs764207146 0.00001
NM_001082971.2(DDC):c.53C>T (p.Ala18Val) rs1179044502 0.00001
NM_001082971.2(DDC):c.564C>T (p.Ser188=) rs371336321 0.00001
NM_001082971.2(DDC):c.569A>T (p.Gln190Leu) rs778157048 0.00001
NM_001082971.2(DDC):c.652C>A (p.Arg218Ser) rs765007524 0.00001
NM_001082971.2(DDC):c.674C>T (p.Ala225Val) rs141265809 0.00001
NM_001082971.2(DDC):c.758A>G (p.Asn253Ser) rs761040177 0.00001
NM_001082971.2(DDC):c.772G>A (p.Gly258Ser) rs766285406 0.00001
NM_001082971.2(DDC):c.79C>T (p.Arg27Cys) rs752474261 0.00001
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) rs886062372 0.00001
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile) rs375716771 0.00001
NC_000007.13:g.(?_50530929)_(50535023_?)dup
NM_001082971.2(DDC):c.*113C>T rs2042178275
NM_001082971.2(DDC):c.*274G>A rs2042175929
NM_001082971.2(DDC):c.-29+4263C>T rs570617223
NM_001082971.2(DDC):c.1010A>G (p.His337Arg) rs373966178
NM_001082971.2(DDC):c.1028T>C (p.Ile343Thr)
NM_001082971.2(DDC):c.1037A>G (p.Tyr346Cys) rs1585151568
NM_001082971.2(DDC):c.1039C>T (p.Arg347Trp) rs773990125
NM_001082971.2(DDC):c.1041+12A>T rs2042651349
NM_001082971.2(DDC):c.1041+3A>G
NM_001082971.2(DDC):c.1041+6_1041+9del
NM_001082971.2(DDC):c.1042C>T (p.His348Tyr)
NM_001082971.2(DDC):c.1048C>G (p.Gln350Glu) rs2153534357
NM_001082971.2(DDC):c.1061G>C (p.Gly354Ala) rs774532449
NM_001082971.2(DDC):c.1062C>A (p.Gly354=) rs2042496890
NM_001082971.2(DDC):c.1067G>T (p.Arg356Ile)
NM_001082971.2(DDC):c.1072C>T (p.Arg358Cys)
NM_001082971.2(DDC):c.1085T>C (p.Met362Thr) rs1017626453
NM_001082971.2(DDC):c.115C>T (p.Arg39Trp) rs151088825
NM_001082971.2(DDC):c.116G>A (p.Arg39Gln) rs376647978
NM_001082971.2(DDC):c.1177C>G (p.Arg393Gly)
NM_001082971.2(DDC):c.1185T>A (p.Asp395Glu)
NM_001082971.2(DDC):c.1189C>T (p.Arg397Cys)
NM_001082971.2(DDC):c.1202G>C (p.Cys401Ser)
NM_001082971.2(DDC):c.1217T>A (p.Leu406Gln) rs2153533796
NM_001082971.2(DDC):c.1242+5G>C
NM_001082971.2(DDC):c.1242G>A (p.Lys414=)
NM_001082971.2(DDC):c.1243-10A>G
NM_001082971.2(DDC):c.1243G>T (p.Gly415Cys)
NM_001082971.2(DDC):c.1244G>A (p.Gly415Asp) rs780538527
NM_001082971.2(DDC):c.1264G>A (p.Ala422Thr)
NM_001082971.2(DDC):c.1265C>T (p.Ala422Val) rs984449557
NM_001082971.2(DDC):c.1280T>G (p.Ile427Arg)
NM_001082971.2(DDC):c.1286G>A (p.Ser429Asn) rs2153533017
NM_001082971.2(DDC):c.128C>G (p.Pro43Arg) rs2044719409
NM_001082971.2(DDC):c.1303_1317del (p.Val436_Leu440del) rs2153533010
NM_001082971.2(DDC):c.1324G>T (p.Asp442Tyr) rs2042326828
NM_001082971.2(DDC):c.1339C>A (p.Arg447Ser)
NM_001082971.2(DDC):c.133G>A (p.Ala45Thr)
NM_001082971.2(DDC):c.134C>T (p.Ala45Val) rs2044718776
NM_001082971.2(DDC):c.1358G>A (p.Arg453His) rs770717871
NM_001082971.2(DDC):c.1367A>T (p.Glu456Val) rs1049290384
NM_001082971.2(DDC):c.1377T>G (p.His459Gln)
NM_001082971.2(DDC):c.1379T>G (p.Val460Gly)
NM_001082971.2(DDC):c.139C>A (p.Pro47Thr)
NM_001082971.2(DDC):c.1420G>A (p.Val474Met)
NM_001082971.2(DDC):c.1421T>G (p.Val474Gly) rs2153532982
NM_001082971.2(DDC):c.1436G>A (p.Arg479Lys)
NM_001082971.2(DDC):c.151G>A (p.Asp51Asn) rs2153550405
NM_001082971.2(DDC):c.169A>G (p.Ile57Val) rs2153550391
NM_001082971.2(DDC):c.175G>C (p.Asp59His) rs931702374
NM_001082971.2(DDC):c.187A>G (p.Ile63Val)
NM_001082971.2(DDC):c.187A>T (p.Ile63Leu) rs769369623
NM_001082971.2(DDC):c.195G>A (p.Met65Ile)
NM_001082971.2(DDC):c.201+4A>G
NM_001082971.2(DDC):c.212G>C (p.Trp71Ser)
NM_001082971.2(DDC):c.212G>T (p.Trp71Leu) rs1220708031
NM_001082971.2(DDC):c.220C>A (p.Pro74Thr)
NM_001082971.2(DDC):c.220C>G (p.Pro74Ala)
NM_001082971.2(DDC):c.231C>A (p.Phe77Leu) rs751519679
NM_001082971.2(DDC):c.232G>A (p.Ala78Thr) rs140276979
NM_001082971.2(DDC):c.238T>C (p.Phe80Leu)
NM_001082971.2(DDC):c.239T>G (p.Phe80Cys)
NM_001082971.2(DDC):c.251G>A (p.Ser84Asn) rs2044566817
NM_001082971.2(DDC):c.266T>C (p.Met89Thr)
NM_001082971.2(DDC):c.270_281dup (p.Ala91_Leu94dup) rs2044565422
NM_001082971.2(DDC):c.292A>G (p.Ile98Val)
NM_001082971.2(DDC):c.316-5G>C rs2044474558
NM_001082971.2(DDC):c.322A>C (p.Ser108Arg) rs1364989731
NM_001082971.2(DDC):c.323G>A (p.Ser108Asn)
NM_001082971.2(DDC):c.326C>T (p.Pro109Leu) rs2153548527
NM_001082971.2(DDC):c.331T>C (p.Cys111Arg)
NM_001082971.2(DDC):c.375G>A (p.Met125Ile)
NM_001082971.2(DDC):c.379G>A (p.Glu127Lys) rs2153548503
NM_001082971.2(DDC):c.388A>C (p.Lys130Gln)
NM_001082971.2(DDC):c.391G>T (p.Ala131Ser) rs2044471850
NM_001082971.2(DDC):c.39G>A (p.Met13Ile) rs2044724081
NM_001082971.2(DDC):c.410C>A (p.Ala137Asp) rs2153548496
NM_001082971.2(DDC):c.412G>A (p.Gly138Arg) rs886062375
NM_001082971.2(DDC):c.418G>A (p.Gly140Arg) rs2153548491
NM_001082971.2(DDC):c.418G>C (p.Gly140Arg) rs2153548491
NM_001082971.2(DDC):c.419G>A (p.Gly140Glu) rs866336739
NM_001082971.2(DDC):c.428T>C (p.Val143Ala)
NM_001082971.2(DDC):c.435+5G>T rs749195794
NM_001082971.2(DDC):c.436-6A>G rs770694855
NM_001082971.2(DDC):c.455C>A (p.Thr152Asn) rs571159150
NM_001082971.2(DDC):c.463G>T (p.Ala155Ser) rs754716883
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp) rs886062374
NM_001082971.2(DDC):c.479G>A (p.Arg160Gln)
NM_001082971.2(DDC):c.485A>C (p.Lys162Thr)
NM_001082971.2(DDC):c.486A>C (p.Lys162Asn) rs764518800
NM_001082971.2(DDC):c.494A>G (p.His165Arg)
NM_001082971.2(DDC):c.496C>T (p.Arg166Trp)
NM_001082971.2(DDC):c.497G>A (p.Arg166Gln) rs767557648
NM_001082971.2(DDC):c.526C>G (p.Gln176Glu)
NM_001082971.2(DDC):c.533C>A (p.Ala178Asp) rs202191889
NM_001082971.2(DDC):c.535A>C (p.Ile179Leu) rs886062373
NM_001082971.2(DDC):c.538A>G (p.Met180Val) rs2153545936
NM_001082971.2(DDC):c.553G>A (p.Ala185Thr)
NM_001082971.2(DDC):c.570+5G>C
NM_001082971.2(DDC):c.571-3C>T
NM_001082971.2(DDC):c.574C>T (p.His192Tyr) rs2153545672
NM_001082971.2(DDC):c.587A>G (p.Glu196Gly) rs2153545667
NM_001082971.2(DDC):c.61A>G (p.Met21Val) rs951039438
NM_001082971.2(DDC):c.623C>A (p.Ala208Asp) rs1166528896
NM_001082971.2(DDC):c.647C>T (p.Ala216Val) rs2044095507
NM_001082971.2(DDC):c.652C>T (p.Arg218Cys)
NM_001082971.2(DDC):c.682A>G (p.Arg228Gly)
NM_001082971.2(DDC):c.685G>C (p.Asp229His)
NM_001082971.2(DDC):c.68G>A (p.Gly23Asp)
NM_001082971.2(DDC):c.697G>A (p.Gly233Ser)
NM_001082971.2(DDC):c.714+4A>G rs200362242
NM_001082971.2(DDC):c.715-3T>C
NM_001082971.2(DDC):c.718G>T (p.Val240Phe) rs2153540570
NM_001082971.2(DDC):c.721G>A (p.Ala241Thr) rs2153540569
NM_001082971.2(DDC):c.734C>T (p.Thr245Ile)
NM_001082971.2(DDC):c.763T>G (p.Leu255Val)
NM_001082971.2(DDC):c.776C>T (p.Pro259Leu)
NM_001082971.2(DDC):c.793G>A (p.Asp265Asn)
NM_001082971.2(DDC):c.80G>A (p.Arg27His) rs781573378
NM_001082971.2(DDC):c.826G>A (p.Gly276Ser) rs2043193191
NM_001082971.2(DDC):c.858C>G (p.His286Gln)
NM_001082971.2(DDC):c.884A>G (p.Asp295Gly) rs914115218
NM_001082971.2(DDC):c.893A>G (p.Asn298Ser)
NM_001082971.2(DDC):c.896T>C (p.Phe299Ser) rs2153538978
NM_001082971.2(DDC):c.913C>T (p.Leu305=)
NM_001082971.2(DDC):c.916T>G (p.Leu306Val) rs1353941471
NM_001082971.2(DDC):c.945-14T>C rs2042728905
NM_001082971.2(DDC):c.94G>T (p.Asp32Tyr)
NM_001082971.2(DDC):c.988C>A (p.Pro330Thr) rs1316356550

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