ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Molecular Genetics, Children's Memorial Health Institute and "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.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502

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