ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, University Medical Center Hamburg-Eppendorf and "likely 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.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg) rs1566891701
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740

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