ClinVar Miner

Variants with conflicting interpretations "benign" from ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel and "likely benign" from any submitter

Minimum review status of the submission from ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel: Collection method of the submission from ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000038.6(APC):c.1549-13A>T rs587781267 0.00004
NM_000038.6(APC):c.1746A>G (p.Glu582=) rs876658969 0.00001
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602

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