ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel and "pathogenic" 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: 7
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1240del (p.Arg414fs) rs1554080082
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) rs1114167603
NM_000038.6(APC):c.423-11A>G rs1580358224
NM_000038.6(APC):c.645+1G>A rs863225370
Single allele

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