ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research and "pathogenic" from any submitter

Minimum review status of the submission from Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research: Collection method of the submission from Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research:
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_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940

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