ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine and "likely pathogenic" from any submitter

Minimum review status of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine: Collection method of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine:
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_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) rs200129338 0.00008
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
Single allele

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