ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital and "risk factor" from any submitter

Minimum review status of the submission from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital: Collection method of the submission from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter) rs200493039
NM_005585.5(SMAD6):c.1304_1313dup (p.Phe439fs) rs1595805211
NM_005585.5(SMAD6):c.1412G>A (p.Gly471Asp) rs1595805424
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) rs958818801
NM_005585.5(SMAD6):c.613T>A (p.Cys205Ser) rs1595757271

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