ClinVar Miner

List of variants reported as benign for Deficiency of aromatic-L-amino-acid decarboxylase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.49A>G (p.Met17Val) rs6264 0.99398
NM_001082971.2(DDC):c.715-22C>T rs11575375 0.36243
NM_001082971.2(DDC):c.436-16C>T rs6950777 0.27949
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.550G>C (p.Val184Leu) rs139433641 0.00011
NM_001082971.2(DDC):c.135T>C (p.Ala45=) rs11575291 0.00006
NM_001082971.2(DDC):c.-29+4233AG[3] rs3837091
NM_001082971.2(DDC):c.1141-18dup
NM_001082971.2(DDC):c.49= (p.Met17=)
NM_001082971.2(DDC):c.570+18dup
NM_001082971.2(DDC):c.945-23T>G rs11575457

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.