ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Medical Genetics, Oslo University Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Department of Medical Genetics, Oslo University Hospital: Collection method of the submission from Department of Medical Genetics, Oslo University Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
Single allele

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