ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn: Collection method of the submission from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) rs1954336272

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.