ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "pathogenic" from OMIM

Minimum review status of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417

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