ClinVar Miner

Variants with conflicting interpretations "likely benign" from International Society for Gastrointestinal Hereditary Tumours (InSiGHT) and "uncertain significance" from any submitter

Minimum review status of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT): Collection method of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008

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