ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli and "pathogenic" from any submitter

Minimum review status of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli: Collection method of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699 0.00001
NM_000163.5(GHR):c.476T>A (p.Leu159Ter) rs961681338
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu) rs777591848
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter) rs2107814279
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_032271.3(TRAF7):c.1873C>G (p.Leu625Val) rs2141298772
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840

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.