ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome 1 by Counsyl

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_000251.1(MSH2):c.-179C>T rs17224094 0.00159
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000251.3(MSH2):c.-181G>A rs786201698 0.00010
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.1276+11A>G rs189015988 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.1(MSH2):c.-182C>T rs876658327 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000251.1(MSH2):c.-225G>C rs138068023 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg) rs587779973 0.00004
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys) rs63751412 0.00003
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu) rs557339938 0.00003
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala) rs730881756 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp) rs587781453 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys) rs587781447 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.3(MSH2):c.399C>T (p.Asp133=) rs61756462 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys) rs63750732 0.00003
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile) rs267608015 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn) rs199747712 0.00002
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) rs587779967 0.00002
NM_000251.3(MSH2):c.792+5A>G rs267607935 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu) rs754562075 0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu) rs761960690 0.00001
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn) rs587781331 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.1831G>A (p.Val611Met) rs369385048 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu) rs267607982 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val) rs373393954 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.437G>T (p.Gly146Val) rs772052262 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000251.3(MSH2):c.934C>G (p.Leu312Val) rs756398636 0.00001
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro) rs753237286 0.00001
NM_000251.2(MSH2):c.-81dup rs587779187
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser) rs63751062
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1271A>G (p.His424Arg) rs200429136
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile) rs1553361185
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys) rs876658187
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly) rs876658582
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu) rs587778523
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly) rs786201077
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala) rs376044376
NM_000251.3(MSH2):c.1828C>A (p.His610Asn) rs267607980
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.200T>A (p.Met67Lys) rs876660001
NM_000251.3(MSH2):c.2139G>T (p.Gly713=) rs63750003
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe) rs587781996
NM_000251.3(MSH2):c.2210+11_2210+22del rs730881782
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr) rs63750368
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
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.2567A>G (p.Tyr856Cys) rs587779150
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met) rs587779155
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys) rs63751173
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg) rs767371843
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.433A>G (p.Ile145Val) rs876659264
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.672C>G (p.Ile224Met) rs587779171
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly) rs587779978
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe) rs63750732
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr) rs753237286

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