ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Academic Department of Medical Genetics, University of Cambridge and "pathogenic" from any submitter

Minimum review status of the submission from Academic Department of Medical Genetics, University of Cambridge: Collection method of the submission from Academic Department of Medical Genetics, University of Cambridge:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs) rs80359601
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522

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