ClinVar Miner

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

Minimum review status of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman: Collection method of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_002693.3(POLG):c.3286C>T rs201732356
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) rs372781135
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873

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