ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Molecular Genetics, Children's Memorial Health Institute and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Molecular Genetics, Children's Memorial Health Institute: Collection method of the submission from Laboratory of Molecular Genetics, Children's Memorial Health Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666

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