ClinVar Miner

List of variants studied for Lynch syndrome 1 by Mendelics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000251.2(MSH2):c.-118T>C rs2303425 0.10354
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000251.3(MSH2):c.*226A>G rs17225060 0.00201
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000251.3(MSH2):c.287G>A (p.Arg96His) rs63750002 0.00004
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_022055.2(KCNK12):c.*8525G>C rs758564047 0.00003
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val) rs755501968 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys) rs587779972 0.00001
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.3(MSH2):c.-21A>T rs776559145
NM_000251.3(MSH2):c.1058del (p.Lys353fs) rs1573456772
NM_000251.3(MSH2):c.1307T>C (p.Phe436Ser) rs1573519324
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile) rs876659906
NM_000251.3(MSH2):c.1331G>A (p.Arg444His) rs557339938
NM_000251.3(MSH2):c.1389G>T (p.Val463=) rs1553365702
NM_000251.3(MSH2):c.1511-1G>T rs267607964
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn) rs373564353
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala) rs754778750
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1746C>T (p.Val582=) rs786201486
NM_000251.3(MSH2):c.174dup (p.Lys59fs) rs1672250622
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs) rs1573566488
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.2005+59_2005+61dup rs76761634
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.212-1G>T rs267607914
NM_000251.3(MSH2):c.212-3_213del rs1573436131
NM_000251.3(MSH2):c.2210+8C>T rs778020437
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu) rs386833406
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) rs1318630651
NM_000251.3(MSH2):c.2299del (p.Ser767fs) rs1573574024
NM_000251.3(MSH2):c.2332dup (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2352del (p.His785fs) rs1667395869
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser) rs786204073
NM_000251.3(MSH2):c.2459-46G>A rs1573578232
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter) rs1573437173
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly) rs63750327
NM_000251.3(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000251.3(MSH2):c.645+1G>T rs267607689
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe) rs587781724
NM_000251.3(MSH2):c.942+17_942+29dup rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29dup rs11309117
NM_000251.3(MSH2):c.942+23_942+29dup rs11309117
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000251.3(MSH2):c.942+7_942+29dup rs11309117
NM_000251.3(MSH2):c.961A>G (p.Thr321Ala) rs587781550
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_022055.2(KCNK12):c.*8388G>T rs1573613933

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