ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan and "likely pathogenic" from any submitter

Minimum review status of the submission from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan: Collection method of the submission from Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.864-1G>A rs571950296 0.00002
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667

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