ClinVar Miner

List of variants reported as uncertain significance by Constitutional Genetics Lab, Leon Berard Cancer Center

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083 0.00008
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000179.3(MSH6):c.362G>A (p.Arg121His) rs769279475 0.00003
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys) rs755818010 0.00002
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474 0.00002
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000535.7(PMS2):c.172C>T (p.Leu58Phe) rs1465172427 0.00001
NM_000179.3(MSH6):c.1067G>A (p.Gly356Asp) rs776170146
NM_000179.3(MSH6):c.1421T>C (p.Val474Ala) rs1669329899
NM_000179.3(MSH6):c.2797T>C (p.Phe933Leu) rs1553414155
NM_000179.3(MSH6):c.3039G>T (p.Lys1013Asn) rs1060502920
NM_000179.3(MSH6):c.3222G>A (p.Met1074Ile) rs1378407358
NM_000179.3(MSH6):c.3454G>A (p.Val1152Ile) rs1572738396
NM_000179.3(MSH6):c.67G>A (p.Ala23Thr) rs730881810
NM_000249.4(MLH1):c.1771G>C (p.Asp591His) rs2085295293
NM_000249.4(MLH1):c.1896+5G>C rs759870594
NM_000249.4(MLH1):c.1982C>A (p.Ala661Asp) rs2085429510
NM_000249.4(MLH1):c.659T>C (p.Phe220Ser) rs2082351733
NM_000251.3(MSH2):c.255T>G (p.Phe85Leu) rs1672552627
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000535.7(PMS2):c.1756T>C (p.Ser586Pro) rs1562627766

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