ClinVar Miner

List of variants studied for aromatic L-amino acid decarboxylase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.1041+8G>A rs4490786 0.21464
NM_001082971.2(DDC):c.*341C>T rs11575553 0.07793
NM_001082971.2(DDC):c.234C>T (p.Ala78=) rs11575302 0.05323
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_001082971.2(DDC):c.*297T>C rs11575551 0.03903
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_001082971.2(DDC):c.*314T>C rs11575552 0.02306
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.183G>T (p.Glu61Asp) rs11575292 0.00411
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_001082971.2(DDC):c.717G>T (p.Met239Ile) rs11575377 0.00230
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.366C>T (p.Leu122=) rs377528325 0.00014
NM_001082971.2(DDC):c.-29+4264G>A rs886062377 0.00013
NM_001082971.2(DDC):c.550G>C (p.Val184Leu) rs139433641 0.00011
NM_001082971.2(DDC):c.1426C>T (p.Arg476Ter) rs148472208 0.00010
NM_001082971.2(DDC):c.20G>A (p.Arg7Gln) rs200792455 0.00009
NM_001082971.2(DDC):c.135T>C (p.Ala45=) rs11575291 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.1044T>C (p.His348=) rs527805112 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.*116T>G rs886062370 0.00003
NM_001082971.2(DDC):c.1190G>A (p.Arg397His) rs144293557 0.00003
NM_001082971.2(DDC):c.6C>T (p.Asn2=) rs749246611 0.00003
NM_001082971.2(DDC):c.265A>G (p.Met89Val) rs886062376 0.00002
NM_001082971.2(DDC):c.586G>A (p.Glu196Lys) rs368618312 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.*23C>A rs560640944 0.00001
NM_001082971.2(DDC):c.-29+4222C>T rs539605396 0.00001
NM_001082971.2(DDC):c.1106A>G (p.Tyr369Cys) rs886062371 0.00001
NM_001082971.2(DDC):c.1177C>T (p.Arg393Cys) rs375309190 0.00001
NM_001082971.2(DDC):c.1307T>C (p.Val436Ala) rs753862164 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.772G>A (p.Gly258Ser) rs766285406 0.00001
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) rs886062372 0.00001
NM_001082971.2(DDC):c.*113C>T rs2042178275
NM_001082971.2(DDC):c.*274G>A rs2042175929
NM_001082971.2(DDC):c.-29+4233AG[3] rs3837091
NM_001082971.2(DDC):c.-29+4263C>T rs570617223
NM_001082971.2(DDC):c.1041+12A>T rs2042651349
NM_001082971.2(DDC):c.1062C>A (p.Gly354=) rs2042496890
NM_001082971.2(DDC):c.316-5G>C rs2044474558
NM_001082971.2(DDC):c.412G>A (p.Gly138Arg) rs886062375
NM_001082971.2(DDC):c.436-6A>G rs770694855
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp) rs886062374
NM_001082971.2(DDC):c.535A>C (p.Ile179Leu) rs886062373
NM_001082971.2(DDC):c.945-14T>C rs2042728905

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