ClinVar Miner

Variants with conflicting interpretations "likely benign" from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center and "benign" from any submitter

Minimum review status of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center:
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_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056

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