ClinVar Miner

Variants with conflicting interpretations "likely benign" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine and "risk factor" from any submitter

Minimum review status of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine: Collection method of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine:
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_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164

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