ClinVar Miner

List of variants studied for Lynch syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 309
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HGVS dbSNP
NM_000179.2(MSH6):c.*85T>A rs2020906
NM_000179.2(MSH6):c.-118G>A rs556432240
NM_000179.2(MSH6):c.-159C>T rs41540312
NM_000179.2(MSH6):c.-41G>T rs886056140
NM_000179.2(MSH6):c.-51G>T rs375109921
NM_000179.2(MSH6):c.-56G>T rs886056139
NM_000179.2(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.2(MSH6):c.1167C>T (p.Pro389=) rs1042819
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1267C>A (p.Leu423Ile) rs587781657
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.1668T>C (p.Tyr556=) rs730882130
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.1915G>A (p.Glu639Lys) rs143517321
NM_000179.2(MSH6):c.2087T>C (p.Ile696Thr) rs587779229
NM_000179.2(MSH6):c.2098C>A (p.Leu700Ile) rs587779230
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.2(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.2(MSH6):c.2562G>T (p.Lys854Asn) rs759048538
NM_000179.2(MSH6):c.2722G>A (p.Glu908Lys) rs886056144
NM_000179.2(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.333C>T (p.Tyr111=) rs786202772
NM_000179.2(MSH6):c.335A>G (p.Asn112Ser) rs587779934
NM_000179.2(MSH6):c.339C>T (p.His113=) rs886056141
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3557-3A>T rs41295274
NM_000179.2(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3801+5G>A rs201080919
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.2(MSH6):c.531A>T (p.Gln177His) rs886056142
NM_000179.2(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.997A>G (p.Thr333Ala) rs886056143
NM_000249.3(MLH1):c.*162_*165delGATT rs796807655
NM_000249.3(MLH1):c.*32C>T rs200903126
NM_000249.3(MLH1):c.*35_*37delCTT rs193922366
NM_000249.3(MLH1):c.-101C>G rs772482820
NM_000249.3(MLH1):c.-114T>C rs886058380
NM_000249.3(MLH1):c.-117G>T rs565891017
NM_000249.3(MLH1):c.-22C>T rs771060933
NM_000249.3(MLH1):c.-86G>A rs558051715
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.1038+15C>T rs886058382
NM_000249.3(MLH1):c.1104G>A (p.Ser368=) rs769364808
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1175A>G (p.Lys392Arg) rs587780678
NM_000249.3(MLH1):c.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1698T>C (p.Tyr566=) rs876658915
NM_000249.3(MLH1):c.1731+11A>T rs886058384
NM_000249.3(MLH1):c.2070C>T (p.Tyr690=) rs550890395
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.546-5del rs1553643965
NM_000249.3(MLH1):c.588+11G>C rs4647258
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.81G>A (p.Arg27=) rs878853791
NM_000251.2(MSH2):c.*141T>G rs17225053
NM_000251.2(MSH2):c.*52A>T rs886056138
NM_000251.2(MSH2):c.*7C>G rs886056137
NM_000251.2(MSH2):c.-118T>C rs2303425
NM_000251.2(MSH2):c.-29C>T rs199841800
NM_000251.2(MSH2):c.-43G>C rs781492698
NM_000251.2(MSH2):c.-94C>G rs786202841
NM_000251.2(MSH2):c.1076+4T>A rs764606343
NM_000251.2(MSH2):c.1124C>G (p.Thr375Ser) rs774539871
NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1560A>G (p.Gly520=) rs63750820
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1670C>G (p.Thr557Ser) rs139920308
NM_000251.2(MSH2):c.1680T>C (p.Asn560=) rs200056411
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.209C>A (p.Ala70Glu) rs587782481
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.2197G>A (p.Ala733Thr) rs772662439
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.2308A>G (p.Ile770Val) rs63750684
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.2463C>T (p.Val821=) rs886056136
NM_000251.2(MSH2):c.2766T>C (p.Phe922=) rs55859129
NM_000251.2(MSH2):c.335C>G (p.Ser112Cys) rs769215192
NM_000251.2(MSH2):c.336C>A (p.Ser112=) rs34312619
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000534.4(PMS1):c.*10T>A rs5743199
NM_000534.4(PMS1):c.*168G>A rs886055369
NM_000534.4(PMS1):c.-100G>T rs5742932
NM_000534.4(PMS1):c.-120G>A rs757537327
NM_000534.4(PMS1):c.-156G>A rs147002700
NM_000534.4(PMS1):c.-193T>C rs886055366
NM_000534.4(PMS1):c.-232G>T rs745440258
NM_000534.4(PMS1):c.-24G>C rs5742933
NM_000534.4(PMS1):c.-257C>G rs886055365
NM_000534.4(PMS1):c.-266G>C rs547545719
NM_000534.4(PMS1):c.-274T>A rs534415170
NM_000534.4(PMS1):c.-68T>A rs886055367
NM_000534.4(PMS1):c.-99G>T rs577363454
NM_000534.4(PMS1):c.1001C>T (p.Thr334Met) rs147084726
NM_000534.4(PMS1):c.1181T>C (p.Met394Thr) rs1145231
NM_000534.4(PMS1):c.1201A>G (p.Lys401Glu) rs756743623
NM_000534.4(PMS1):c.1332A>G (p.Val444=) rs534243480
NM_000534.4(PMS1):c.141T>C (p.Tyr47=) rs5742980
NM_000534.4(PMS1):c.1501G>A (p.Gly501Arg) rs1145232
NM_000534.4(PMS1):c.1586G>A (p.Ser529Asn) rs56064816
NM_000534.4(PMS1):c.1609G>A (p.Glu537Lys) rs151325573
NM_000534.4(PMS1):c.171C>T (p.Asn57=) rs756254396
NM_000534.4(PMS1):c.174G>T (p.Gly58=) rs143323454
NM_000534.4(PMS1):c.1974C>T (p.Ser658=) rs886055368
NM_000534.4(PMS1):c.1975G>T (p.Ala659Ser) rs747650016
NM_000534.4(PMS1):c.2377T>C (p.Tyr793His) rs1145234
NM_000534.4(PMS1):c.2474-7C>A rs767622075
NM_000534.4(PMS1):c.315+6G>A rs5742981
NM_000534.4(PMS1):c.345T>C (p.Asp115=) rs2066457
NM_000534.4(PMS1):c.401C>T (p.Pro134Leu) rs776398978
NM_000534.4(PMS1):c.605G>A (p.Arg202Lys) rs2066459
NM_000534.4(PMS1):c.823-14A>G rs368186524
NM_000535.6(PMS2):c.-93G>T rs6976537
NM_000535.7(PMS2):c.*107A>G rs148520351
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2007-7C>T rs55954143
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.705+3A>G rs764334813
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_001040108.1(MLH3):c.*1237A>G rs114347490
NM_001040108.1(MLH3):c.*1341del rs5809689
NM_001040108.1(MLH3):c.*1347T>G rs539246160
NM_001040108.1(MLH3):c.*1376C>T rs117160510
NM_001040108.1(MLH3):c.*1452G>T rs886050771
NM_001040108.1(MLH3):c.*1701del rs886050770
NM_001040108.1(MLH3):c.*1877T>C rs108622
NM_001040108.1(MLH3):c.*1896A>G rs28757059
NM_001040108.1(MLH3):c.*1990T>A rs886050769
NM_001040108.1(MLH3):c.*2086C>T rs886050768
NM_001040108.1(MLH3):c.*2174C>T rs28757060
NM_001040108.1(MLH3):c.*2417G>A rs175049
NM_001040108.1(MLH3):c.*2590T>C rs138458771
NM_001040108.1(MLH3):c.*2965C>T rs10134636
NM_001040108.1(MLH3):c.*3048del rs886050767
NM_001040108.1(MLH3):c.*3105C>G rs543449865
NM_001040108.1(MLH3):c.*3140C>T rs77514025
NM_001040108.1(MLH3):c.*3148A>G rs108621
NM_001040108.1(MLH3):c.*3206C>T rs188135545
NM_001040108.1(MLH3):c.*744A>G rs886050774
NM_001040108.1(MLH3):c.*772T>A rs182733472
NM_001040108.1(MLH3):c.*797dup rs886050773
NM_001040108.1(MLH3):c.*889G>A rs886050772
NM_001040108.1(MLH3):c.*957C>A rs424120
NM_001040108.1(MLH3):c.*957_*958delinsAT rs386778871
NM_001040108.1(MLH3):c.*958G>T rs398896
NM_001040108.1(MLH3):c.-120G>A rs886050782
NM_001040108.1(MLH3):c.-133C>G rs145920461
NM_001040108.1(MLH3):c.-149G>C rs886050783
NM_001040108.1(MLH3):c.-202A>C rs886050784
NM_001040108.1(MLH3):c.-204G>A rs116839793
NM_001040108.1(MLH3):c.-208G>A rs886050785
NM_001040108.1(MLH3):c.-27G>A rs886050780
NM_001040108.1(MLH3):c.-4T>G rs28756977
NM_001040108.1(MLH3):c.-63-16dup rs886050781
NM_001040108.1(MLH3):c.1144G>T (p.Val382Leu) rs558393444
NM_001040108.1(MLH3):c.1258G>A (p.Val420Ile) rs28756982
NM_001040108.1(MLH3):c.1300A>G (p.Asn434Asp) rs886050777
NM_001040108.1(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040108.1(MLH3):c.1560G>T (p.Glu520Asp) rs886050776
NM_001040108.1(MLH3):c.206T>C (p.Val69Ala) rs886050779
NM_001040108.1(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988
NM_001040108.1(MLH3):c.2167G>A (p.Val723Ile) rs28756989
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
NM_001040108.1(MLH3):c.2373G>A (p.Leu791=) rs764724825
NM_001040108.1(MLH3):c.2390G>A (p.Arg797His) rs28756991
NM_001040108.1(MLH3):c.2476A>G (p.Asn826Asp) rs175081
NM_001040108.1(MLH3):c.2531C>T (p.Pro844Leu) rs175080
NM_001040108.1(MLH3):c.2533A>G (p.Ser845Gly) rs28756992
NM_001040108.1(MLH3):c.2825C>T (p.Thr942Ile) rs17102999
NM_001040108.1(MLH3):c.2838C>A (p.Ser946=) rs181990057
NM_001040108.1(MLH3):c.2896T>C (p.Ser966Pro) rs17782839
NM_001040108.1(MLH3):c.2924A>G (p.Asn975Ser) rs141066164
NM_001040108.1(MLH3):c.2987G>A (p.Gly996Glu) rs886050775
NM_001040108.1(MLH3):c.3136C>T (p.Arg1046Trp) rs765313787
NM_001040108.1(MLH3):c.3280+14A>T rs142042839
NM_001040108.1(MLH3):c.3384T>C (p.Thr1128=) rs370951929
NM_001040108.1(MLH3):c.3405C>T (p.Ser1135=) rs746155226
NM_001040108.1(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529
NM_001040108.1(MLH3):c.3576C>T (p.Leu1192=) rs376981545
NM_001040108.1(MLH3):c.3784C>T (p.Pro1262Ser) rs372912259
NM_001040108.1(MLH3):c.3987+15C>T rs117251698
NM_001040108.1(MLH3):c.3987+7C>A rs28757028
NM_001040108.1(MLH3):c.408T>C (p.Asp136=) rs61755655
NM_001040108.1(MLH3):c.4091-2A>C rs906969002
NM_001040108.1(MLH3):c.4242+13C>G rs77157930
NM_001040108.1(MLH3):c.429G>A (p.Gly143=) rs138943686
NM_001040108.1(MLH3):c.4335A>G (p.Gln1445=) rs13712
NM_001040108.1(MLH3):c.444G>C (p.Val148=) rs11556091
NM_001040108.1(MLH3):c.666G>A (p.Lys222=) rs28756980
NM_001040108.1(MLH3):c.691A>C (p.Lys231Gln) rs28756981
NM_001040108.1(MLH3):c.713A>C (p.Tyr238Ser) rs144707485
NM_001040108.1(MLH3):c.837C>T (p.Cys279=) rs149962294
NM_001040108.1(MLH3):c.8A>G (p.Lys3Arg) rs114829239
NM_001040108.1(MLH3):c.961A>G (p.Met321Val) rs886050778
NM_001258281.1(MSH2):c.-130G>T rs587782786
NM_001258281.1(MSH2):c.-87G>A rs552303079
NM_001258281.1(MSH2):c.744+26_744+29del rs11309117
NM_001322007.1(PMS2):c.-261T>A rs765248325
NM_001322007.1(PMS2):c.-263C>A rs886062402
NM_002354.2(EPCAM):c.*118T>C rs1421
NM_002354.2(EPCAM):c.*147dup rs886056132
NM_002354.2(EPCAM):c.*168C>T rs886056133
NM_002354.2(EPCAM):c.*241C>G rs184633732
NM_002354.2(EPCAM):c.*246G>T rs551199869
NM_002354.2(EPCAM):c.*261G>C rs189199539
NM_002354.2(EPCAM):c.*265A>T rs11554292
NM_002354.2(EPCAM):c.*28G>A rs766267508
NM_002354.2(EPCAM):c.*362A>G rs539981178
NM_002354.2(EPCAM):c.*36G>A rs77204711
NM_002354.2(EPCAM):c.*41T>G rs200991028
NM_002354.2(EPCAM):c.*73C>T rs1803881
NM_002354.2(EPCAM):c.-111G>A rs886056130
NM_002354.2(EPCAM):c.-162T>A rs886056129
NM_002354.2(EPCAM):c.-189C>G rs539900942
NM_002354.2(EPCAM):c.-192G>T rs376344699
NM_002354.2(EPCAM):c.-203C>G rs886056128
NM_002354.2(EPCAM):c.-221G>A rs572608653
NM_002354.2(EPCAM):c.-247G>C rs371271353
NM_002354.2(EPCAM):c.-253G>C rs752048938
NM_002354.2(EPCAM):c.-280G>C rs545339093
NM_002354.2(EPCAM):c.-318C>A rs886056127
NM_002354.2(EPCAM):c.-324C>A rs886056126
NM_002354.2(EPCAM):c.-349G>T rs766549830
NM_002354.2(EPCAM):c.-79C>T rs886056131
NM_002354.2(EPCAM):c.-98C>G rs528859440
NM_002354.2(EPCAM):c.131G>A (p.Arg44His) rs538099447
NM_002354.2(EPCAM):c.21C>A (p.Leu7=) rs878854487
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.2(EPCAM):c.272A>G (p.Asn91Ser) rs755230402
NM_002354.2(EPCAM):c.344T>C (p.Met115Thr) rs1126497
NM_002354.2(EPCAM):c.487C>T (p.Arg163Trp) rs148725106
NM_002354.2(EPCAM):c.492-5T>C rs78608315
NM_002354.2(EPCAM):c.50C>A (p.Thr17Lys) rs116429842
NM_002354.2(EPCAM):c.515C>T (p.Thr172Met) rs74531854
NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) rs200676965
NM_002354.2(EPCAM):c.63C>G (p.Ala21=) rs549177672
NM_002354.2(EPCAM):c.77-11T>A rs114241106
NM_002354.2(EPCAM):c.831A>G (p.Ile277Met) rs115283528
NM_002354.2(EPCAM):c.859-6A>G rs150307203
NM_002354.2(EPCAM):c.859-7C>T rs72882786
NM_002354.2(EPCAM):c.904-12T>C rs62139669
NM_014239.4(EIF2B2):c.*180G>C rs4556
NM_014239.4(EIF2B2):c.*3G>C rs112087431
NM_014239.4(EIF2B2):c.*56C>T rs116393177
NM_016467.5(ORMDL1):c.-118+136C>T rs5742927
NM_016467.5(ORMDL1):c.-118+144C>T rs576428024
NM_016467.5(ORMDL1):c.-118+190C>A rs5742926
NM_016467.5(ORMDL1):c.-120C>T rs5742928
NM_016467.5(ORMDL1):c.-143G>A rs886055364
NM_016467.5(ORMDL1):c.-161G>A rs5742929
NM_016467.5(ORMDL1):c.-188G>A rs5742931

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