ClinVar Miner

Variants with conflicting interpretations "likely benign" from International Society for Gastrointestinal Hereditary Tumours (InSiGHT) and "benign" 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: 12
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
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_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
MSH6:c.3647-51_3647-35del17 rs267607687
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668

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