ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by Mendelics

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser) rs587781616 0.00006
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser) rs373721483 0.00005
NM_000179.3(MSH6):c.1661G>A (p.Arg554His) rs730881791 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly) rs537604099 0.00003
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) rs2020872 0.00003
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser) rs755931648 0.00003
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly) rs370330868 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys) rs1252374906 0.00001
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg) rs876661281 0.00001
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625 0.00001
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val) rs781627838 0.00001
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln) rs876659115 0.00001
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val) rs144714869 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633 0.00001
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys) rs747727493 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145 0.00001
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln) rs1203462814 0.00001
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu) rs1558660575
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val) rs1553412749
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser) rs1558662449
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile) rs767861096
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr) rs1558665569
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln) rs761622304
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu) rs1257646433
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu) rs115386788
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg) rs1553414398
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val) rs1553331522
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser) rs369583604
NM_000179.3(MSH6):c.3613_3615dup (p.Thr1205dup) rs1558390840
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr) rs1553333561
NM_000179.3(MSH6):c.4001+42_4001+44dup rs926031657
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer) rs1553334006
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly) rs876659786
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala) rs1553412354
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys) rs1416171624
NM_000249.4(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro) rs1558493372
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser) rs1558519495
NM_000251.3(MSH2):c.2009C>A (p.Pro670His) rs41294982
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser) rs1558519505
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val) rs1558521518
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile) rs758889557
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu) rs55859129
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile) rs1189127007
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala) rs63751107
NM_000535.7(PMS2):c.1171G>C (p.Asp391His) rs1064795020
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.989-3T>C rs1156325177

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