ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Ocular Genomics Institute, Massachusetts Eye and Ear and "uncertain significance" from any submitter

Minimum review status of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear: Collection method of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear:
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_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004

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