ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eye Genetics Research Group, Children's Medical Research Institute and "likely benign" from any submitter

Minimum review status of the submission from Eye Genetics Research Group, Children's Medical Research Institute: Collection method of the submission from Eye Genetics Research Group, Children's Medical Research Institute:
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_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088

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