ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg and "pathogenic" from Ocular Genomics Institute, Massachusetts Eye and Ear

Minimum review status of the submission from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg: Collection method of the submission from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205

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