ClinVar Miner

List of variants in gene MSH6 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000179.3(MSH6):c.457+52T>A rs3136282 0.29585
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000179.3(MSH6):c.1053C>T (p.His351=) rs28903083 0.00003
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu) rs863224621 0.00001
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr) rs574358605 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu) rs587779282 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.1409C>G (p.Ser470Ter) rs2104341995
NM_000179.3(MSH6):c.1784del (p.Leu595fs) rs267608050
NM_000179.3(MSH6):c.1991C>G (p.Ser664Ter) rs1553413355
NM_000179.3(MSH6):c.2045C>T (p.Ser682Phe) rs587779225
NM_000179.3(MSH6):c.2050_2051dup (p.Leu684_Gly685insTer) rs587779226
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs) rs63750904
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs) rs267608101
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729

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