ClinVar Miner

Variants with conflicting interpretations "benign" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine and "other" 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: 5
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HGVS dbSNP gnomAD frequency
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076 0.02032

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