ClinVar Miner

List of variants reported as likely benign for Lynch syndrome 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000535.7(PMS2):c.*107A>G rs148520351 0.00901
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000535.7(PMS2):c.706-3C>T rs1229860023 0.00030
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NR_136154.1(PMS2):n.13T>C rs746329908 0.00009
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.803+23A>T rs370719706 0.00006
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.988+10A>G rs372554253 0.00002
NM_000535.7(PMS2):c.1047G>A (p.Lys349=) rs1422380612 0.00001
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834 0.00001
NM_000535.7(PMS2):c.1455G>A (p.Thr485=) rs752665758 0.00001
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709 0.00001
NM_000535.7(PMS2):c.1926A>G (p.Glu642=) rs765262682 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.705+13G>A rs776790763 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp) rs563433235 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000535.6(PMS2):c.-49C>T rs952806552
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln) rs1060503135
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.706-11T>C rs1185117521
NM_000535.7(PMS2):c.706-14T>A rs1057523232
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.804-12A>G rs1221537446
NM_000535.7(PMS2):c.903+20_903+21del rs746861817

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.