ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens and "risk factor" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170

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