ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital: Collection method of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln) rs1553196096
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro) rs1553196101
NM_001791.4(CDC42):c.476C>T (p.Ala159Val) rs1553196134
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_176795.5(HRAS):c.488_497del (p.Leu163fs) rs764755556

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