ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center and "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center: Collection method of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn) rs200406024 0.00016
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile) rs779736415 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814

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