ClinVar Miner

List of variants in gene MSH2 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys) rs63750379 0.00001
NM_000251.3(MSH2):c.1661+3T>G rs1064793688
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2367del (p.Leu790fs) rs1667397201
NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys) rs1667403267
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.2562del (p.Gln855fs) rs1114167836
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile) rs878853813
NM_000251.3(MSH2):c.482T>C (p.Val161Ala) rs63750126
NM_000251.3(MSH2):c.795del (p.Ala266fs) rs63749902
NM_000251.3(MSH2):c.942+14_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000251.3(MSH2):c.942+27_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del

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