ClinVar Miner

List of variants in gene MSH2 reported by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp) rs587781453 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000251.3(MSH2):c.1156G>A (p.Asp386Asn) rs1419725521 0.00001
NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln) rs757276241 0.00001
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val) rs587781627 0.00001
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val) rs786202987 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu) rs63750488 0.00001
NM_000251.3(MSH2):c.14C>T (p.Pro5Leu) rs56170584
NM_000251.3(MSH2):c.1511-13_1511-9delinsGT rs1558510749
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly) rs786201077
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu) rs372189599
NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs) rs1558518449
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr) rs878853811
NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr) rs587781447
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.56T>C (p.Phe19Ser) rs1320061495

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