ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Inflammatory Disease Section/Clinical Genetics Service, National Human Genome Research Institute and "likely pathogenic" from MGZ Medical Genetics Center

Minimum review status of the submission from Inflammatory Disease Section/Clinical Genetics Service, National Human Genome Research Institute: Collection method of the submission from Inflammatory Disease Section/Clinical Genetics Service, National Human Genome Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867

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