ClinVar Miner

List of variants in gene DDC reported as likely benign 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: 210
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_001082971.2(DDC):c.715A>T (p.Met239Leu) rs11575376 0.00069
NM_001082971.2(DDC):c.1022-6C>T rs193227256 0.00062
NM_001082971.2(DDC):c.207G>A (p.Thr69=) rs61731774 0.00041
NM_001082971.2(DDC):c.1242+11A>G rs113510841 0.00026
NM_001082971.2(DDC):c.571-18C>G rs199781526 0.00022
NM_001082971.2(DDC):c.132C>T (p.Ala44=) rs369201549 0.00020
NM_001082971.2(DDC):c.807C>T (p.His269=) rs138333052 0.00017
NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly) rs200450773 0.00016
NM_001082971.2(DDC):c.366C>T (p.Leu122=) rs377528325 0.00014
NM_001082971.2(DDC):c.550G>C (p.Val184Leu) rs139433641 0.00011
NM_001082971.2(DDC):c.201+8T>C rs757343696 0.00008
NM_001082971.2(DDC):c.316-7A>C rs11575318 0.00008
NM_001082971.2(DDC):c.120G>A (p.Pro40=) rs373640169 0.00006
NM_001082971.2(DDC):c.315+11G>A rs753275419 0.00006
NM_001082971.2(DDC):c.816A>C (p.Ala272=) rs767990522 0.00006
NM_001082971.2(DDC):c.900T>C (p.Asn300=) rs766824418 0.00006
NM_001082971.2(DDC):c.435+19G>C rs575698722 0.00005
NM_001082971.2(DDC):c.687C>T (p.Asp229=) rs760646534 0.00005
NM_001082971.2(DDC):c.876+20T>C rs1321999395 0.00005
NM_001082971.2(DDC):c.1044T>C (p.His348=) rs527805112 0.00004
NM_001082971.2(DDC):c.1362G>A (p.Thr454=) rs772812241 0.00004
NM_001082971.2(DDC):c.174C>T (p.Asn58=) rs200233157 0.00004
NM_001082971.2(DDC):c.315+10C>T rs369907099 0.00004
NM_001082971.2(DDC):c.315+14T>C rs201015793 0.00004
NM_001082971.2(DDC):c.316-6C>T rs377474761 0.00004
NM_001082971.2(DDC):c.771C>T (p.Val257=) rs117436059 0.00004
NM_001082971.2(DDC):c.822C>T (p.Tyr274=) rs746729797 0.00004
NM_001082971.2(DDC):c.1243-17T>C rs770471152 0.00003
NM_001082971.2(DDC):c.1389C>G (p.Ala463=) rs757662816 0.00003
NM_001082971.2(DDC):c.153C>T (p.Asp51=) rs559913213 0.00003
NM_001082971.2(DDC):c.156G>A (p.Thr52=) rs369020209 0.00003
NM_001082971.2(DDC):c.6C>T (p.Asn2=) rs749246611 0.00003
NM_001082971.2(DDC):c.726C>T (p.Thr242=) rs151222677 0.00003
NM_001082971.2(DDC):c.876+15C>T rs758371217 0.00003
NM_001082971.2(DDC):c.969G>A (p.Thr323=) rs1463739427 0.00003
NM_001082971.2(DDC):c.1021+12G>C rs761895984 0.00002
NM_001082971.2(DDC):c.1042-7A>G rs972908643 0.00002
NM_001082971.2(DDC):c.1143T>C (p.His381=) rs756891812 0.00002
NM_001082971.2(DDC):c.1167G>A (p.Glu389=) rs1025795093 0.00002
NM_001082971.2(DDC):c.1243-20C>T rs745796650 0.00002
NM_001082971.2(DDC):c.216C>T (p.His72=) rs752936791 0.00002
NM_001082971.2(DDC):c.231C>T (p.Phe77=) rs751519679 0.00002
NM_001082971.2(DDC):c.261G>A (p.Pro87=) rs200437940 0.00002
NM_001082971.2(DDC):c.714+19G>A rs368647422 0.00002
NM_001082971.2(DDC):c.714+8C>G rs765510502 0.00002
NM_001082971.2(DDC):c.714+9G>A rs757500557 0.00002
NM_001082971.2(DDC):c.*23C>A rs560640944 0.00001
NM_001082971.2(DDC):c.105C>T (p.Pro35=) rs751163340 0.00001
NM_001082971.2(DDC):c.112C>T (p.Leu38=) rs199586683 0.00001
NM_001082971.2(DDC):c.1164T>C (p.Phe388=) rs369370213 0.00001
NM_001082971.2(DDC):c.1386G>A (p.Arg462=) rs1025539290 0.00001
NM_001082971.2(DDC):c.1413G>A (p.Ala471=) rs528137159 0.00001
NM_001082971.2(DDC):c.171C>A (p.Ile57=) rs1270014886 0.00001
NM_001082971.2(DDC):c.303C>T (p.Ile101=) rs779672487 0.00001
NM_001082971.2(DDC):c.315+13A>T rs983582853 0.00001
NM_001082971.2(DDC):c.42G>A (p.Val14=) rs1234378528 0.00001
NM_001082971.2(DDC):c.457C>T (p.Leu153=) rs200657003 0.00001
NM_001082971.2(DDC):c.531C>T (p.Ala177=) rs548757623 0.00001
NM_001082971.2(DDC):c.564C>T (p.Ser188=) rs371336321 0.00001
NM_001082971.2(DDC):c.804G>A (p.Leu268=) rs764694910 0.00001
NM_001082971.2(DDC):c.876+11C>T rs369667328 0.00001
NM_001082971.2(DDC):c.945-15G>T rs755244033 0.00001
NM_001082971.2(DDC):c.1005C>T (p.His335=) rs748632382
NM_001082971.2(DDC):c.1021+12G>A
NM_001082971.2(DDC):c.1021+14C>T
NM_001082971.2(DDC):c.1021+7T>C
NM_001082971.2(DDC):c.1022-17_1022-16del
NM_001082971.2(DDC):c.1022-7T>C
NM_001082971.2(DDC):c.1041+12A>T rs2042651349
NM_001082971.2(DDC):c.1041+15C>T
NM_001082971.2(DDC):c.1041+20G>A
NM_001082971.2(DDC):c.1042-16T>A rs762555334
NM_001082971.2(DDC):c.1042-16T>C rs762555334
NM_001082971.2(DDC):c.1042-9T>C
NM_001082971.2(DDC):c.105C>G (p.Pro35=)
NM_001082971.2(DDC):c.1074C>A (p.Arg358=)
NM_001082971.2(DDC):c.1134C>T (p.Ile378=)
NM_001082971.2(DDC):c.1140+17T>G
NM_001082971.2(DDC):c.1141-15C>T
NM_001082971.2(DDC):c.1146C>A (p.Val382=)
NM_001082971.2(DDC):c.1155C>T (p.Ser385=)
NM_001082971.2(DDC):c.115C>A (p.Arg39=) rs151088825
NM_001082971.2(DDC):c.1179C>T (p.Arg393=)
NM_001082971.2(DDC):c.1185T>C (p.Asp395=)
NM_001082971.2(DDC):c.1206G>C (p.Val402=)
NM_001082971.2(DDC):c.1242+10C>T rs1302258110
NM_001082971.2(DDC):c.1242+18C>T
NM_001082971.2(DDC):c.1242+20A>G
NM_001082971.2(DDC):c.1242+9A>G
NM_001082971.2(DDC):c.1243-4C>T
NM_001082971.2(DDC):c.1245T>C (p.Gly415=)
NM_001082971.2(DDC):c.1251C>T (p.Asn417=)
NM_001082971.2(DDC):c.1257G>A (p.Val419=)
NM_001082971.2(DDC):c.129T>C (p.Pro43=)
NM_001082971.2(DDC):c.1311A>G (p.Pro437=)
NM_001082971.2(DDC):c.1365G>A (p.Val455=)
NM_001082971.2(DDC):c.1368A>G (p.Glu456=)
NM_001082971.2(DDC):c.1377T>C (p.His459=)
NM_001082971.2(DDC):c.1384C>A (p.Arg462=)
NM_001082971.2(DDC):c.1410G>A (p.Leu470=) rs2042323799
NM_001082971.2(DDC):c.1413G>T (p.Ala471=) rs528137159
NM_001082971.2(DDC):c.1416C>T (p.Ala472=)
NM_001082971.2(DDC):c.1419C>T (p.Asp473=)
NM_001082971.2(DDC):c.144G>A (p.Gln48=)
NM_001082971.2(DDC):c.147G>A (p.Glu49=)
NM_001082971.2(DDC):c.165C>T (p.Asp55=)
NM_001082971.2(DDC):c.177C>T (p.Asp59=)
NM_001082971.2(DDC):c.180T>C (p.Val60=) rs2153550384
NM_001082971.2(DDC):c.201+11A>G
NM_001082971.2(DDC):c.201+7G>T rs1172420809
NM_001082971.2(DDC):c.201+8T>G rs757343696
NM_001082971.2(DDC):c.202-10T>G
NM_001082971.2(DDC):c.202-18C>G
NM_001082971.2(DDC):c.202-5T>C
NM_001082971.2(DDC):c.202-8C>T rs2153549160
NM_001082971.2(DDC):c.243C>A (p.Pro81=)
NM_001082971.2(DDC):c.255G>A (p.Ser85=) rs367959876
NM_001082971.2(DDC):c.255G>C (p.Ser85=)
NM_001082971.2(DDC):c.273G>A (p.Ala91=)
NM_001082971.2(DDC):c.276C>T (p.Asp92=)
NM_001082971.2(DDC):c.285C>T (p.Cys95=)
NM_001082971.2(DDC):c.288G>T (p.Gly96=)
NM_001082971.2(DDC):c.300C>T (p.Cys100=)
NM_001082971.2(DDC):c.315+10C>G
NM_001082971.2(DDC):c.315+11G>C
NM_001082971.2(DDC):c.316-11C>T
NM_001082971.2(DDC):c.316-18T>C rs2153548546
NM_001082971.2(DDC):c.316-4A>G
NM_001082971.2(DDC):c.316-5G>A rs2044474558
NM_001082971.2(DDC):c.316-5G>C rs2044474558
NM_001082971.2(DDC):c.316-8C>A
NM_001082971.2(DDC):c.316-8C>G
NM_001082971.2(DDC):c.316-8C>T
NM_001082971.2(DDC):c.318G>A (p.Ala106=)
NM_001082971.2(DDC):c.351G>C (p.Val117=)
NM_001082971.2(DDC):c.390G>A (p.Lys130=) rs2153548501
NM_001082971.2(DDC):c.393A>G (p.Ala131=)
NM_001082971.2(DDC):c.429G>A (p.Val143=)
NM_001082971.2(DDC):c.435+15G>A
NM_001082971.2(DDC):c.436-17C>A
NM_001082971.2(DDC):c.436-18A>G rs2153545989
NM_001082971.2(DDC):c.436-6A>G rs770694855
NM_001082971.2(DDC):c.456C>T (p.Thr152=)
NM_001082971.2(DDC):c.459G>A (p.Leu153=)
NM_001082971.2(DDC):c.459G>C (p.Leu153=) rs780705506
NM_001082971.2(DDC):c.469C>T (p.Leu157=)
NM_001082971.2(DDC):c.483C>A (p.Thr161=) rs2153545967
NM_001082971.2(DDC):c.48C>T (p.Tyr16=)
NM_001082971.2(DDC):c.507A>G (p.Ala169=) rs2153545951
NM_001082971.2(DDC):c.510G>A (p.Ala170=)
NM_001082971.2(DDC):c.531C>G (p.Ala177=)
NM_001082971.2(DDC):c.561A>G (p.Ser187=)
NM_001082971.2(DDC):c.570+18G>T
NM_001082971.2(DDC):c.571-19T>G rs1563029656
NM_001082971.2(DDC):c.600A>G (p.Leu200=)
NM_001082971.2(DDC):c.612G>T (p.Val204=)
NM_001082971.2(DDC):c.615A>G (p.Lys205=)
NM_001082971.2(DDC):c.627C>A (p.Ile209=)
NM_001082971.2(DDC):c.630C>G (p.Pro210=)
NM_001082971.2(DDC):c.630C>T (p.Pro210=)
NM_001082971.2(DDC):c.645C>T (p.Phe215=) rs766408554
NM_001082971.2(DDC):c.657G>A (p.Ala219=) rs1262172516
NM_001082971.2(DDC):c.666G>T (p.Leu222=) rs761672337
NM_001082971.2(DDC):c.672A>G (p.Glu224=) rs1585235665
NM_001082971.2(DDC):c.684A>G (p.Arg228=)
NM_001082971.2(DDC):c.693G>A (p.Ala231=)
NM_001082971.2(DDC):c.693G>T (p.Ala231=) rs138287031
NM_001082971.2(DDC):c.699C>A (p.Gly233=)
NM_001082971.2(DDC):c.700C>T (p.Leu234=)
NM_001082971.2(DDC):c.702G>C (p.Leu234=)
NM_001082971.2(DDC):c.714+14C>T
NM_001082971.2(DDC):c.714+17T>C
NM_001082971.2(DDC):c.714+18T>A rs2153545602
NM_001082971.2(DDC):c.714+8C>T rs765510502
NM_001082971.2(DDC):c.715-12T>C
NM_001082971.2(DDC):c.715-7C>T rs2043327056
NM_001082971.2(DDC):c.720T>C (p.Val240=)
NM_001082971.2(DDC):c.741A>G (p.Thr247=) rs2153540565
NM_001082971.2(DDC):c.781+10C>G
NM_001082971.2(DDC):c.781+10C>T
NM_001082971.2(DDC):c.781+11G>A
NM_001082971.2(DDC):c.781+8T>A
NM_001082971.2(DDC):c.781+9C>A
NM_001082971.2(DDC):c.781+9C>T
NM_001082971.2(DDC):c.782-6C>T rs2153539686
NM_001082971.2(DDC):c.789G>A (p.Lys263=)
NM_001082971.2(DDC):c.792A>G (p.Glu264=)
NM_001082971.2(DDC):c.819C>T (p.Ala273=)
NM_001082971.2(DDC):c.834A>C (p.Ala278=)
NM_001082971.2(DDC):c.852C>T (p.Phe284=)
NM_001082971.2(DDC):c.855G>A (p.Arg285=) rs2043191670
NM_001082971.2(DDC):c.858C>T (p.His286=)
NM_001082971.2(DDC):c.876+16G>A
NM_001082971.2(DDC):c.876+8C>T
NM_001082971.2(DDC):c.877-10T>G rs2153538984
NM_001082971.2(DDC):c.877-12G>T
NM_001082971.2(DDC):c.877-13T>C
NM_001082971.2(DDC):c.877-15C>T rs1052574079
NM_001082971.2(DDC):c.87C>G (p.Val29=)
NM_001082971.2(DDC):c.903C>T (p.Pro301=)
NM_001082971.2(DDC):c.939C>T (p.Ala313=)
NM_001082971.2(DDC):c.944+18C>T
NM_001082971.2(DDC):c.944+19A>C rs2153538960
NM_001082971.2(DDC):c.945-13T>A rs751797399
NM_001082971.2(DDC):c.945-13T>C
NM_001082971.2(DDC):c.945-20C>G
NM_001082971.2(DDC):c.966A>G (p.Leu322=)

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