ClinVar Miner

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

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: 9
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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_013328.4(PYCR2):c.355C>T (p.Arg119Cys) rs372781135 0.00006
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318

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