ClinVar Miner

List of variants in gene MSH2 reported as pathogenic for Hereditary nonpolyposis colon cancer

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NC_000002.11:g.(47630542_47635539)_(47635695_47637232)del
NC_000002.11:g.(47630542_47635539)_(47643569_47656880)del
NC_000002.11:g.(47635695_47637232)_(47637512_47639552)del
NC_000002.11:g.(47635695_47637232)_(47643569_47656880)del
NC_000002.11:g.(47635695_47637232)_(47672797_47690169)del
NC_000002.11:g.(47639700_47641407)_(47641558_47643434)del
NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del
NC_000002.11:g.(47657081_47672686)_(47710368_?)del
NC_000002.11:g.(47672797_47690169)_(47690294_47693796)del
NC_000002.11:g.(?_47630205)_(47630542_47635539)del
NC_000002.11:g.(?_47630205)_(47698202_47702163)del
NC_000002.11:g.(?_47630205)_(47710368_?)del
NC_000002.12:g.(47416430_47429741)_(47445658_47463030)del
NC_000002.12:g.(47429942_47445547)_(47445658_47463030)del
NC_000002.12:g.(?_47403066)_(47410373_47412413)del
NC_000002.12:g.(?_47403066)_(47416430_47429741)del
NG_007110.2:g.(?_47707835)_(47708005_?)dup
NM_000251.3(MSH2):c.1008del (p.Gln337fs) rs879253899
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter) rs63751412
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter) rs980244810
NM_000251.3(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter) rs63750203
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.211+1G>C rs1114167883
NM_000251.3(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.3(MSH2):c.217_227del (p.Lys73fs) rs1114167863
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter) rs63751018
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.3(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter) rs63751226
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter) rs63751426
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter) rs63750574
NM_000251.3(MSH2):c.650_654del (p.Ile217fs) rs63751602
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter) rs63749991
NM_000251.3(MSH2):c.846del (p.Asp282fs)
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.970_971del (p.Gln324fs) rs63751044
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828

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