ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Medical Molecular Genetics Department, National Research Center and "pathogenic" from any submitter

Minimum review status of the submission from Medical Molecular Genetics Department, National Research Center: Collection method of the submission from Medical Molecular Genetics Department, National Research Center:
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_000487.6(ARSA):c.371G>A (p.Gly124Asp) rs2082689435
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)

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