ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Medical Molecular Genetics Department, National Research Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Medical Molecular Genetics Department, National Research Center: Collection method of the submission from Medical Molecular Genetics Department, National Research Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) rs1574786170

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