ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute for Genomic Medicine, Nationwide Children's Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital: Collection method of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_020791.4(TAOK1):c.2203del (p.Arg735fs) rs2150772064
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524

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