ClinVar Miner

List of variants reported as likely benign 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: 113
Download table as spreadsheet
HGVS dbSNP
NM_000179.2(MSH6):c.-159C>T rs41540312
NM_000179.2(MSH6):c.1164C>T (p.His388=) rs55708305
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.186C>A (p.Arg62=) rs1042820
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.276A>G (p.Pro92=) rs1800932
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1558+14G>A rs41562513
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.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_000251.2(MSH2):c.*141T>G rs17225053
NM_000251.2(MSH2):c.-118T>C rs2303425
NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2766T>C (p.Phe922=) rs55859129
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.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.-100G>T rs5742932
NM_000534.4(PMS1):c.-24G>C rs5742933
NM_000534.4(PMS1):c.1181T>C (p.Met394Thr) rs1145231
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.2377T>C (p.Tyr793His) rs1145234
NM_000534.4(PMS1):c.315+6G>A rs5742981
NM_000534.4(PMS1):c.345T>C (p.Asp115=) rs2066457
NM_000535.6(PMS2):c.-93G>T rs6976537
NM_000535.7(PMS2):c.*107A>G rs148520351
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.1866G>A (p.Met622Ile) rs1805324
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.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895
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.780C>G (p.Ser260=) rs1805319
NM_001040108.1(MLH3):c.*1877T>C rs108622
NM_001040108.1(MLH3):c.*1896A>G rs28757059
NM_001040108.1(MLH3):c.*2417G>A rs175049
NM_001040108.1(MLH3):c.*2965C>T rs10134636
NM_001040108.1(MLH3):c.*3140C>T rs77514025
NM_001040108.1(MLH3):c.*3148A>G rs108621
NM_001040108.1(MLH3):c.*957C>A rs424120
NM_001040108.1(MLH3):c.*958G>T rs398896
NM_001040108.1(MLH3):c.-133C>G rs145920461
NM_001040108.1(MLH3):c.-204G>A rs116839793
NM_001040108.1(MLH3):c.1258G>A (p.Val420Ile) rs28756982
NM_001040108.1(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
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.2896T>C (p.Ser966Pro) rs17782839
NM_001040108.1(MLH3):c.3987+7C>A rs28757028
NM_001040108.1(MLH3):c.4242+13C>G rs77157930
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.8A>G (p.Lys3Arg) rs114829239
NM_001167617.2(MLH1):c.*158_*161GATT[1] rs796807655
NM_001167617.2(MLH1):c.*32_*34CTT[1] rs193922366
NM_001281492.1(MSH6):c.3678_3681dup (p.Lys1228delinsAspTer) rs55740729
NM_002354.2(EPCAM):c.*118T>C rs1421
NM_002354.2(EPCAM):c.*265A>T rs11554292
NM_002354.2(EPCAM):c.*36G>A rs77204711
NM_002354.2(EPCAM):c.-247G>C rs371271353
NM_002354.2(EPCAM):c.-280G>C rs545339093
NM_002354.2(EPCAM):c.344T>C (p.Met115Thr) rs1126497
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.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_014381.3(MLH3):c.*1341del rs5809689
NM_016467.5(ORMDL1):c.-118+136C>T rs5742927
NM_016467.5(ORMDL1):c.-118+190C>A rs5742926
NM_016467.5(ORMDL1):c.-120C>T rs5742928
NM_016467.5(ORMDL1):c.-161G>A rs5742929

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.