ClinVar Miner

List of variants studied for Lynch syndrome by Mendelics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP
NM_000179.2(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.2(MSH6):c.1120A>G (p.Lys374Glu) rs1558660575
NM_000179.2(MSH6):c.1127A>G (p.Glu376Gly) rs764150912
NM_000179.2(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065
NM_000179.2(MSH6):c.1321C>G (p.Leu441Val) rs1553412749
NM_000179.2(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.2(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.2(MSH6):c.1651G>A (p.Gly551Ser) rs1558662449
NM_000179.2(MSH6):c.1661G>A (p.Arg554His) rs730881791
NM_000179.2(MSH6):c.1729C>T (p.Arg577Cys) rs542838372
NM_000179.2(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.2(MSH6):c.175C>A (p.Pro59Thr) rs761033647
NM_000179.2(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.2(MSH6):c.1814C>G (p.Thr605Ser) rs587781616
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.2(MSH6):c.2107A>G (p.Met703Val) rs751867550
NM_000179.2(MSH6):c.2161A>G (p.Arg721Gly) rs537604099
NM_000179.2(MSH6):c.2180C>T (p.Thr727Ile)
NM_000179.2(MSH6):c.2347T>A (p.Cys783Ser) rs373721483
NM_000179.2(MSH6):c.2408A>G (p.Asp803Gly) rs63751450
NM_000179.2(MSH6):c.2419G>A (p.Glu807Lys) rs587779923
NM_000179.2(MSH6):c.2480A>C (p.Asn827Thr) rs1558665569
NM_000179.2(MSH6):c.2629G>A (p.Glu877Lys) rs730881797
NM_000179.2(MSH6):c.2640_2641insAAA (p.Gly881_Phe882insLys) rs1252374906
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.2693C>G (p.Pro898Arg) rs876661281
NM_000179.2(MSH6):c.2732G>A (p.Arg911Gln) rs761622304
NM_000179.2(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.2(MSH6):c.275C>T (p.Pro92Leu) rs1257646433
NM_000179.2(MSH6):c.2963G>T (p.Arg988Leu) rs115386788
NM_000179.2(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3019T>C (p.Trp1007Arg) rs1553414398
NM_000179.2(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.2(MSH6):c.3307T>G (p.Phe1103Val) rs1553331522
NM_000179.2(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.2(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.2(MSH6):c.3524C>G (p.Thr1175Ser) rs369583604
NM_000179.2(MSH6):c.3598A>G (p.Ile1200Val) rs781627838
NM_000179.2(MSH6):c.359T>C (p.Ile120Thr) rs775971872
NM_000179.2(MSH6):c.3613_3615dup (p.Thr1205dup) rs1558390840
NM_000179.2(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3841G>C (p.Glu1281Gln) rs876659115
NM_000179.2(MSH6):c.3847A>G (p.Ile1283Val) rs144714869
NM_000179.2(MSH6):c.3904G>A (p.Ala1302Thr) rs1553333561
NM_000179.2(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.2(MSH6):c.4001+32_4001+35dup rs267608136
NM_000179.2(MSH6):c.4001+42_4001+44dup rs926031657
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-4T>C rs370428032
NM_000179.2(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147
NM_000179.2(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer) rs1553334006
NM_000179.2(MSH6):c.4034_4042del (p.Val1345_Ala1347del) rs864622703
NM_000179.2(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.545C>G (p.Ala182Gly)
NM_000179.2(MSH6):c.627+26_627+37del rs1558656848
NM_000179.2(MSH6):c.650A>G (p.Asp217Gly) rs554012110
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000179.2(MSH6):c.838A>G (p.Ser280Gly) rs1558659442
NM_000179.2(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.2(MSH6):c.923G>C (p.Gly308Ala) rs1553412354
NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1038+4A>C rs1251478879
NM_000249.3(MLH1):c.1038+8C>T rs751872237
NM_000249.3(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.3(MLH1):c.1154G>A (p.Arg385His) rs63750430
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.3(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.3(MLH1):c.1453G>T (p.Asp485Tyr)
NM_000249.3(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.3(MLH1):c.1514G>A (p.Ser505Asn) rs771044689
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.3(MLH1):c.1791G>T (p.Trp597Cys) rs1416171624
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1864del (p.Ala623fs) rs1559588540
NM_000249.3(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.3(MLH1):c.1876T>C (p.Phe626Leu) rs377241633
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) rs747727493
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.306+6C>T rs746641892
NM_000249.3(MLH1):c.514G>T (p.Glu172Ter) rs1559524405
NM_000249.3(MLH1):c.588+5G>C rs267607768
NM_000249.3(MLH1):c.5C>T (p.Ser2Leu) rs587779029
NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.3(MLH1):c.644A>G (p.Asn215Ser) rs267607775
NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.3(MLH1):c.652T>C (p.Ser218Pro) rs750650349
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.884+39G>A rs370283452
NM_000249.3(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1130A>G (p.Gln377Arg) rs776174711
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1286A>C (p.Gln429Pro) rs1558493372
NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1547G>A (p.Ser516Asn) rs373564353
NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.2(MSH2):c.1571G>A (p.Arg524His) rs63751207
NM_000251.2(MSH2):c.157G>T (p.Ala53Ser) rs755931648
NM_000251.2(MSH2):c.1595T>C (p.Val532Ala) rs754778750
NM_000251.2(MSH2):c.1724A>G (p.Asp575Gly) rs370330868
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.1790A>C (p.Asp597Ala) rs548407418
NM_000251.2(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.2(MSH2):c.1847C>G (p.Pro616Arg) rs587779965
NM_000251.2(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145
NM_000251.2(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.2(MSH2):c.2005+8dup rs267607992
NM_000251.2(MSH2):c.2008C>T (p.Pro670Ser) rs1558519495
NM_000251.2(MSH2):c.2009C>A (p.Pro670His) rs41294982
NM_000251.2(MSH2):c.2012A>G (p.Asn671Ser) rs1558519505
NM_000251.2(MSH2):c.2039G>A (p.Arg680Gln) rs1203462814
NM_000251.2(MSH2):c.2111T>C (p.Ile704Thr) rs564657106
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.2243A>T (p.Asp748Val) rs1558521518
NM_000251.2(MSH2):c.2417C>T (p.Thr806Ile) rs758889557
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.2(MSH2):c.2459_2460GT[1] (p.Val821fs) rs1114167828
NM_000251.2(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.2(MSH2):c.2581C>T (p.Gln861Ter) rs63750291
NM_000251.2(MSH2):c.2606C>A (p.Ala869Glu) rs730881772
NM_000251.2(MSH2):c.2766T>G (p.Phe922Leu)
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.279_281delTCT rs267607919
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.2(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000251.2(MSH2):c.64T>A (p.Phe22Ile) rs1189127007
NM_000251.2(MSH2):c.716A>G (p.Gln239Arg) rs199676483
NM_000251.2(MSH2):c.80C>T (p.Pro27Leu) rs750746034
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000251.2(MSH2):c.97A>G (p.Thr33Ala) rs63751107
NM_000251.2(MSH2):c.992A>G (p.Asn331Ser) rs779673318
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.989-3T>C rs1156325177

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