ClinVar Miner

Variants in gene DDC with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.715A>T (p.Met239Leu) rs11575376 0.00069
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.315+11G>A rs753275419 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.6C>T (p.Asn2=) rs749246611 0.00003
NM_001082971.2(DDC):c.564C>T (p.Ser188=) rs371336321 0.00001
NM_001082971.2(DDC):c.1041+12A>T rs2042651349
NM_001082971.2(DDC):c.316-5G>C rs2044474558
NM_001082971.2(DDC):c.436-6A>G rs770694855

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.