ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota: Collection method of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota:
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 gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016

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