ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Mayo Clinic Laboratories, Mayo Clinic and "benign" from any submitter

Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic Laboratories, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
UGT1A1*6 rs4148323 0.00891
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
Single allele
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744

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