ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome 1 by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro) rs773226008
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn) rs1558664787
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.117-1G>T rs587779950
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg) rs1558466685
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2635-2A>G rs1114167818

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.