ClinVar Miner

List of variants studied for Lynch syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.706-4del rs60794673

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