ClinVar Miner

List of variants studied for Lynch syndrome 5 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr) rs587779926 0.00003
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu) rs587779932 0.00003
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter) rs1553412835
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs) rs2104368213
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs) rs1669432834
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs) rs2530679270
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2806del (p.Asp936fs)
NM_000179.3(MSH6):c.2977G>T (p.Glu993Ter) rs1558667523
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs) rs1572730021
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.313del (p.Trp105fs) rs1572708636
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser) rs1669748364
NM_000179.3(MSH6):c.3647-2A>G
NM_000179.3(MSH6):c.3811dup (p.Val1271fs)
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094

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