ClinVar Miner

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

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57695
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
CYP2C9*5 rs28371686 0.00342
NM_000482.3(APOA4):c.748G>A (p.Glu250Lys) rs121909576 0.00029
NM_000477.7(ALB):c.1721A>G (p.Asp574Gly) rs79738788 0.00012
CYP2C9*6 rs9332131
NM_000482.4(APOA4):c.1134_1145dup (p.376QQEQ[4]) rs539176882

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