ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Mayo Clinic Laboratories, Mayo Clinic and "likely 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: 7
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
UGT1A1*6 rs4148323 0.01140
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00110
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
Single allele

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