ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University and "pathogenic" from any submitter

Minimum review status of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University: Collection method of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University:
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_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) rs372781135 0.00006
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter) rs1566560531
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318

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.