ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Klaassen Lab, Charite University Medicine Berlin and "pathogenic" from any submitter

Minimum review status of the submission from Klaassen Lab, Charite University Medicine Berlin: Collection method of the submission from Klaassen Lab, Charite University Medicine Berlin:
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_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238

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