ClinVar Miner

Variants with conflicting interpretations "other" from OMIM and "benign" from any submitter

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000446.6(PON1):c.-108C>T rs705379 0.36079
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_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076 0.02032
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_000482.3(APOA4):c.748G>A (p.Glu250Lys) rs121909576 0.00029
NM_000477.7(ALB):c.1721A>G (p.Asp574Gly) rs79738788 0.00012
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000482.4(APOA4):c.1134_1145dup (p.376QQEQ[4]) rs539176882
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927

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