ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation and "pathogenic" from any submitter

Minimum review status of the submission from SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation: Collection method of the submission from SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation:
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_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr) rs2540955932

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