ClinVar Miner

List of variants studied for Lynch syndrome 1 by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.1487G>A (p.Cys496Tyr) rs764593111 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000251.3(MSH2):c.1344C>T (p.Ser448=) rs1010360604 0.00001
NM_000251.3(MSH2):c.213A>G (p.Gly71=) rs878853808 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro) rs773226008
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn) rs1558664787
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000249.3(MLH1):c.[-27C>A;85G>T]
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe) rs63751701
NM_000249.4(MLH1):c.117-1G>T rs587779950
NM_000249.4(MLH1):c.121G>C (p.Asp41His) rs267607713
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala) rs63751682
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro) rs587779957
NM_000249.4(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.4(MLH1):c.2197C>T (p.His733Tyr) rs1553665846
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly) rs267607900
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser) rs267607895
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.4(MLH1):c.2T>G (p.Met1Arg) rs111052004
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306+1G>A rs267607734
NM_000249.4(MLH1):c.306+2dup rs267607738
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.790+5G>T rs267607771
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.4(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_000251.2(MSH2):c.1277-6224_1386+4836del
NM_000251.2(MSH2):c.1277-6284_1386+4776del
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg) rs1558466685
NM_000251.3(MSH2):c.1077-2A>C rs267607943
NM_000251.3(MSH2):c.1277-4076_1386+1819del
NM_000251.3(MSH2):c.1387-9T>A rs587779087
NM_000251.3(MSH2):c.1510G>C (p.Gly504Arg) rs63751600
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.3(MSH2):c.2005G>C (p.Gly669Arg) rs63751668
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2635-2A>G rs1114167818
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter) rs63751469
NM_000251.3(MSH2):c.2647del (p.Ile883fs) rs63750084
NM_000251.3(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.3(MSH2):c.482T>A (p.Val161Asp) rs63750126
NM_000251.3(MSH2):c.488T>G (p.Val163Gly) rs63750214
NM_000251.3(MSH2):c.518T>G (p.Leu173Arg) rs63750070
NM_000251.3(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.3(MSH2):c.792G>C (p.Gln264His) rs587779183
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup

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