ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital: Collection method of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College 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_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822

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