ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf: Collection method of the submission from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf:
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_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176

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