ClinVar Miner

List of variants in gene MSH3 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter) rs374133543 0.00004
NM_002439.5(MSH3):c.1764-1G>A rs367544716 0.00003
NM_002439.5(MSH3):c.2436-1G>A rs200639359 0.00003
NM_002439.5(MSH3):c.2803del (p.Ile935fs) rs766672143 0.00003
NM_002439.5(MSH3):c.2695_2696del (p.Met899fs) rs1204002507 0.00002
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter) rs139170496 0.00001
NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter) rs539295465 0.00001
NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter) rs1398195482 0.00001
NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter) rs758191157 0.00001
NM_002439.5(MSH3):c.1597G>T (p.Glu533Ter) rs1321121530 0.00001
NM_002439.5(MSH3):c.1992del (p.Gln664fs) rs1328242717 0.00001
NM_002439.5(MSH3):c.2100_2101del (p.Glu701fs) rs1744168201 0.00001
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter) rs376667075 0.00001
NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter) rs770330684 0.00001
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter) rs1580035037 0.00001
NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter) rs1561486630 0.00001
NM_002439.5(MSH3):c.2835del (p.Tyr946fs) rs767188723 0.00001
NM_002439.5(MSH3):c.697G>T (p.Glu233Ter) rs756632960 0.00001
NM_002439.5(MSH3):c.721C>T (p.Gln241Ter) rs1481996174 0.00001
NM_002439.5(MSH3):c.724C>T (p.Gln242Ter) rs772046189 0.00001
NM_002439.5(MSH3):c.802C>T (p.Arg268Ter) rs201033017 0.00001
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn) rs757164724 0.00001
NC_000005.10:g.(?_80656401)_(80656541_?)del
NC_000005.10:g.(?_80665133)_(80665373_?)del
NC_000005.10:g.(?_80725443)_(80761688_?)del
NC_000005.10:g.(?_80744496)_(80744625_?)del
NC_000005.10:g.(?_80775684)_(80775768_?)del
NC_000005.10:g.80787565del
NC_000005.9:g.(?_79960952)_(80063949_?)del
NC_000005.9:g.(?_79965906)_(79974922_?)del
NC_000005.9:g.(?_80021262)_(80088673_?)del
NC_000005.9:g.(?_80063742)_(80071587_?)del
NC_000005.9:g.(?_80088542)_(80088673_?)del
NC_000005.9:g.(?_80109393)_(80109570_?)del
NC_000005.9:g.(?_80149939)_(80150145_?)del
NC_000005.9:g.(?_80160622)_(80160771_?)del
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer) rs1580553607
NM_002439.5(MSH3):c.1040del (p.Leu347fs) rs1580553624
NM_002439.5(MSH3):c.1060dup (p.Val354fs) rs1580553669
NM_002439.5(MSH3):c.1087dup (p.Thr363fs) rs1234762807
NM_002439.5(MSH3):c.1106dup (p.Cys370fs)
NM_002439.5(MSH3):c.1116del (p.Glu373fs) rs2112816043
NM_002439.5(MSH3):c.1123A>T (p.Lys375Ter) rs1749809581
NM_002439.5(MSH3):c.1145_1148del (p.Lys382fs)
NM_002439.5(MSH3):c.1148_1149del (p.Lys383fs)
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002439.5(MSH3):c.1148dup (p.Asn385fs) rs587776701
NM_002439.5(MSH3):c.1173+1G>A rs928721752
NM_002439.5(MSH3):c.1173+2T>G rs2112816143
NM_002439.5(MSH3):c.1180C>T (p.Gln394Ter)
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter) rs578113271
NM_002439.5(MSH3):c.1264C>T (p.Gln422Ter) rs1580556516
NM_002439.5(MSH3):c.1296del (p.Leu432fs) rs1749906415
NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs) rs757194485
NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter) rs963234468
NM_002439.5(MSH3):c.1384del (p.Tyr462fs)
NM_002439.5(MSH3):c.1395C>G (p.Tyr465Ter)
NM_002439.5(MSH3):c.1412_1420delinsGGTAATATACATCACATTCAAGATAATGTTTGCTTCTTTTATTAATTTTTTTTTTTAATTTGAGACGATGTTTCACTCTTGCTCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCATTGCAGCCTTGACTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCCAAGTAGCTGGGACTACAGGCATGTGCTACCGTGCCTGGCTAATTTTTGTATTTTTTGTAGAGAGAGCCATGTTGCCCAGGCTGGTCTTAAACTCCTGAGCTCAGGCAGTCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATTAAGCCACCGTGCCCGGCCAGCGTTTCCTTCTGGAAATCGTAGAGGGATGTGATT (p.Ala471_Glu474delinsGlyTer) rs2112855504
NM_002439.5(MSH3):c.1417dup (p.Thr473fs) rs1743272091
NM_002439.5(MSH3):c.1418_1419del (p.Thr473fs) rs772520703
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs) rs778610412
NM_002439.5(MSH3):c.1428T>G (p.Tyr476Ter)
NM_002439.5(MSH3):c.1434del (p.Asp479fs) rs2112855544
NM_002439.5(MSH3):c.1438dup (p.Thr480fs)
NM_002439.5(MSH3):c.1448dup (p.Lys484fs) rs1743273111
NM_002439.5(MSH3):c.1459C>T (p.Gln487Ter) rs2112857813
NM_002439.5(MSH3):c.1468_1469insAT (p.Ser490fs)
NM_002439.5(MSH3):c.1490dup (p.Pro498fs)
NM_002439.5(MSH3):c.1499_1500insGG (p.Ile500fs) rs2112857873
NM_002439.5(MSH3):c.1499_1502dup (p.Ser502fs) rs1743353294
NM_002439.5(MSH3):c.1524del (p.Lys508fs) rs1580589397
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter) rs1379605717
NM_002439.5(MSH3):c.1545_1546delinsC (p.Leu515fs) rs1580589429
NM_002439.5(MSH3):c.1554_1558delinsCCTA (p.Met518fs) rs1743355453
NM_002439.5(MSH3):c.1575dup (p.Lys526Ter) rs2112866746
NM_002439.5(MSH3):c.1579C>T (p.Gln527Ter) rs1204734473
NM_002439.5(MSH3):c.1611_1614del (p.Ile537fs) rs2112866803
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) rs775863622
NM_002439.5(MSH3):c.1642del (p.Leu548fs) rs1580597385
NM_002439.5(MSH3):c.1644del (p.Gln549fs) rs2112866857
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs) rs1580597397
NM_002439.5(MSH3):c.1679del (p.Leu560fs)
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter) rs1395288001
NM_002439.5(MSH3):c.1691del (p.Val563_Leu564insTer) rs2112868879
NM_002439.5(MSH3):c.1730dup (p.Lys578fs) rs2112868948
NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter) rs2112868963
NM_002439.5(MSH3):c.1738del (p.Trp579_Val580insTer)
NM_002439.5(MSH3):c.1739del (p.Val580fs) rs2112868967
NM_002439.5(MSH3):c.1744C>T (p.Gln582Ter) rs750104015
NM_002439.5(MSH3):c.1758_1762del (p.Leu587fs) rs776738086
NM_002439.5(MSH3):c.1764-243_1896+1del rs2112879604
NM_002439.5(MSH3):c.1765G>T (p.Glu589Ter)
NM_002439.5(MSH3):c.1772del (p.Asn591fs) rs1580027407
NM_002439.5(MSH3):c.1808C>A (p.Ser603Ter)
NM_002439.5(MSH3):c.1828C>T (p.Gln610Ter) rs1360794165
NM_002439.5(MSH3):c.1836_1845del (p.Glu612fs)
NM_002439.5(MSH3):c.1838dup (p.Asn613fs)
NM_002439.5(MSH3):c.1874del (p.Leu625fs) rs1744037495
NM_002439.5(MSH3):c.1877_1878del (p.Leu625_Cys626insTer) rs1260807695
NM_002439.5(MSH3):c.1885del (p.Tyr629fs)
NM_002439.5(MSH3):c.1886_1887del (p.Tyr629fs) rs2112880063
NM_002439.5(MSH3):c.1890del (p.His630fs)
NM_002439.5(MSH3):c.1894_1896delinsT (p.Lys632fs) rs1744038356
NM_002439.5(MSH3):c.1896+2T>C rs1580027713
NM_002439.5(MSH3):c.1896del (p.Lys632fs)
NM_002439.5(MSH3):c.1896dup (p.Cys633fs)
NM_002439.5(MSH3):c.1906dup (p.Gln636fs)
NM_002439.5(MSH3):c.1907_1908del (p.Gln636fs) rs2112884291
NM_002439.5(MSH3):c.1934del (p.Leu645fs)
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs) rs1580033751
NM_002439.5(MSH3):c.2018dup (p.Leu673fs) rs1744152835
NM_002439.5(MSH3):c.2042del (p.Pro681fs) rs1744154190
NM_002439.5(MSH3):c.2047dup (p.Glu683fs)
NM_002439.5(MSH3):c.2057T>G (p.Leu686Ter) rs1744154635
NM_002439.5(MSH3):c.2057_2066del (p.Leu686fs) rs766122076
NM_002439.5(MSH3):c.2105dup (p.Leu702fs)
NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs) rs1455445683
NM_002439.5(MSH3):c.2141dup (p.Arg715fs) rs751236312
NM_002439.5(MSH3):c.2144_2145insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGAG (p.Lys716fs)
NM_002439.5(MSH3):c.2158C>T (p.Gln720Ter)
NM_002439.5(MSH3):c.2191C>T (p.Gln731Ter)
NM_002439.5(MSH3):c.2207_2208del (p.Ile736fs) rs2112885246
NM_002439.5(MSH3):c.2216del (p.Asn739fs) rs1580035033
NM_002439.5(MSH3):c.2216dup (p.Asn739fs) rs1580035033
NM_002439.5(MSH3):c.2227C>T (p.Gln743Ter) rs1350652736
NM_002439.5(MSH3):c.2227_2228del (p.Gln743fs) rs1371600437
NM_002439.5(MSH3):c.2229dup (p.Tyr744fs)
NM_002439.5(MSH3):c.2248C>T (p.Gln750Ter)
NM_002439.5(MSH3):c.2253+3_2253+7del rs1488467945
NM_002439.5(MSH3):c.2270_2273del (p.Lys757fs) rs1744285692
NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs) rs1416092389
NM_002439.5(MSH3):c.2293_2294insT (p.Pro765fs)
NM_002439.5(MSH3):c.2300_2303del (p.Asp767fs) rs1462955256
NM_002439.5(MSH3):c.2304G>A (p.Trp768Ter)
NM_002439.5(MSH3):c.2305del (p.Trp768_Val769insTer)
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002439.5(MSH3):c.2319-1G>C rs866260675
NM_002439.5(MSH3):c.2319-2A>G rs1197719947
NM_002439.5(MSH3):c.2346_2347del (p.Pro783fs)
NM_002439.5(MSH3):c.2367C>G (p.Tyr789Ter)
NM_002439.5(MSH3):c.2375_2385del (p.Leu792fs)
NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter) rs748016039
NM_002439.5(MSH3):c.2392C>T (p.Gln798Ter) rs2112007877
NM_002439.5(MSH3):c.2413del (p.Ala805fs) rs2112007970
NM_002439.5(MSH3):c.2420G>A (p.Trp807Ter) rs2112007993
NM_002439.5(MSH3):c.2421G>A (p.Trp807Ter) rs1744356274
NM_002439.5(MSH3):c.242del (p.Thr81fs) rs752795642
NM_002439.5(MSH3):c.2441dup (p.Ser815fs)
NM_002439.5(MSH3):c.2454T>A (p.Tyr818Ter) rs1744531551
NM_002439.5(MSH3):c.2504del (p.Phe835fs) rs1744532526
NM_002439.5(MSH3):c.2512del (p.Ala838fs)
NM_002439.5(MSH3):c.2530_2534del (p.Gly844fs) rs2112020385
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter) rs1749286503
NM_002439.5(MSH3):c.254_255del (p.Arg85fs)
NM_002439.5(MSH3):c.2564_2565del (p.Arg855fs) rs2112026672
NM_002439.5(MSH3):c.2575del (p.Val858_Ile859insTer)
NM_002439.5(MSH3):c.257del (p.Arg86fs) rs1749286902
NM_002439.5(MSH3):c.2584G>T (p.Gly862Ter)
NM_002439.5(MSH3):c.259_265del (p.Lys87fs)
NM_002439.5(MSH3):c.260_263del (p.Lys87fs) rs756190979
NM_002439.5(MSH3):c.2620C>T (p.Gln874Ter) rs2112026812
NM_002439.5(MSH3):c.2639del (p.Asn880fs) rs2112026860
NM_002439.5(MSH3):c.263_267del (p.Lys88fs) rs777843647
NM_002439.5(MSH3):c.2648del (p.Asp883fs) rs1580053760
NM_002439.5(MSH3):c.2668_2671del (p.Glu889_Arg890insTer) rs1561486632
NM_002439.5(MSH3):c.2670_2671del (p.Arg890fs) rs1561486632
NM_002439.5(MSH3):c.2670_2671dup (p.Val891fs)
NM_002439.5(MSH3):c.2674dup (p.Met892fs) rs2112054145
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002439.5(MSH3):c.2739del (p.Ile914fs) rs2112054380
NM_002439.5(MSH3):c.2749C>T (p.Gln917Ter) rs1745048937
NM_002439.5(MSH3):c.2760del (p.Tyr921fs) rs751326348
NM_002439.5(MSH3):c.2807del (p.Phe936fs) rs1580066605
NM_002439.5(MSH3):c.2816_2828del (p.Met939fs)
NM_002439.5(MSH3):c.2831_2832insCA (p.Lys947fs)
NM_002439.5(MSH3):c.2838_2839dup (p.Lys947fs)
NM_002439.5(MSH3):c.2871_2874del (p.Asp958fs) rs1580091499
NM_002439.5(MSH3):c.2876_2877del (p.Thr959fs) rs1580091512
NM_002439.5(MSH3):c.2887del (p.Ile963fs) rs1745878088
NM_002439.5(MSH3):c.2893A>T (p.Lys965Ter)
NM_002439.5(MSH3):c.2905C>T (p.Gln969Ter)
NM_002439.5(MSH3):c.292A>T (p.Lys98Ter) rs1749288232
NM_002439.5(MSH3):c.2938_2941dup (p.Thr981fs) rs2112106537
NM_002439.5(MSH3):c.293_296del (p.Lys98fs) rs1580540688
NM_002439.5(MSH3):c.2941dup (p.Thr981fs) rs2112106551
NM_002439.5(MSH3):c.2967dup (p.Ala990fs) rs2112106614
NM_002439.5(MSH3):c.296dup (p.Lys100fs) rs1580540688
NM_002439.5(MSH3):c.298A>T (p.Lys100Ter) rs776286022
NM_002439.5(MSH3):c.2992_2993del (p.Ile998fs) rs2112106687
NM_002439.5(MSH3):c.3001-2A>G rs886037878
NM_002439.5(MSH3):c.3016_3017del (p.Leu1006fs)
NM_002439.5(MSH3):c.302_306del (p.Val101fs) rs1749288569
NM_002439.5(MSH3):c.3046G>T (p.Glu1016Ter)
NM_002439.5(MSH3):c.3059del (p.Asn1020fs) rs973992111
NM_002439.5(MSH3):c.3059dup (p.Asn1020fs)
NM_002439.5(MSH3):c.3064_3067del (p.Ser1022fs)
NM_002439.5(MSH3):c.307_310del (p.Lys103fs) rs1259647122
NM_002439.5(MSH3):c.3084C>G (p.Tyr1028Ter)
NM_002439.5(MSH3):c.3120_3121insT (p.Leu1041fs)
NM_002439.5(MSH3):c.3130G>A (p.Gly1044Ser) rs1451464888
NM_002439.5(MSH3):c.3142C>T (p.Gln1048Ter) rs2112128589
NM_002439.5(MSH3):c.3150del (p.Asp1051fs)
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter) rs149350323
NM_002439.5(MSH3):c.3172C>T (p.Gln1058Ter)
NM_002439.5(MSH3):c.3181del (p.Arg1061fs)
NM_002439.5(MSH3):c.3214_3218del (p.Asn1071_Val1072insTer)
NM_002439.5(MSH3):c.3220A>T (p.Lys1074Ter) rs2112128764
NM_002439.5(MSH3):c.3236del (p.Pro1079fs) rs2112128814
NM_002439.5(MSH3):c.356_357del (p.Asn118_Ser119insTer)
NM_002439.5(MSH3):c.392C>G (p.Ser131Ter) rs2112808726
NM_002439.5(MSH3):c.392del (p.Val130_Ser131insTer) rs1743016889
NM_002439.5(MSH3):c.400_401del (p.Leu134fs) rs2112808731
NM_002439.5(MSH3):c.408del (p.Lys136fs)
NM_002439.5(MSH3):c.415G>T (p.Glu139Ter) rs1749541157
NM_002439.5(MSH3):c.444_448del (p.Arg150fs)
NM_002439.5(MSH3):c.445dup (p.Ser149fs) rs2112808805
NM_002439.5(MSH3):c.454C>T (p.Gln152Ter) rs2112808820
NM_002439.5(MSH3):c.460G>T (p.Glu154Ter) rs771370664
NM_002439.5(MSH3):c.460_461del (p.Glu154fs) rs1580546655
NM_002439.5(MSH3):c.469C>T (p.Gln157Ter) rs2112808839
NM_002439.5(MSH3):c.503dup (p.Asp168fs) rs2112808889
NM_002439.5(MSH3):c.513del (p.Asp171fs) rs1749544783
NM_002439.5(MSH3):c.523_524del (p.Leu175fs) rs2112808916
NM_002439.5(MSH3):c.565C>T (p.Gln189Ter) rs1580546793
NM_002439.5(MSH3):c.574dup (p.Gln192fs) rs2112809000
NM_002439.5(MSH3):c.586del (p.Thr196fs) rs771721952
NM_002439.5(MSH3):c.588_589del (p.Leu197fs)
NM_002439.5(MSH3):c.593_594del (p.Leu197_Phe198insTer)
NM_002439.5(MSH3):c.594del (p.Phe198fs) rs2112812135
NM_002439.5(MSH3):c.595del (p.Asp199fs) rs1749670424
NM_002439.5(MSH3):c.609del (p.Phe203fs) rs1749670835
NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)
NM_002439.5(MSH3):c.640C>T (p.Gln214Ter) rs952650934
NM_002439.5(MSH3):c.651_655del (p.Ser218fs)
NM_002439.5(MSH3):c.654del (p.Lys219fs)
NM_002439.5(MSH3):c.667A>T (p.Lys223Ter) rs2112812231
NM_002439.5(MSH3):c.669del (p.Lys223fs)
NM_002439.5(MSH3):c.687T>G (p.Tyr229Ter)
NM_002439.5(MSH3):c.703C>T (p.Gln235Ter) rs371356175
NM_002439.5(MSH3):c.704_705del (p.Gln235fs) rs1749674216
NM_002439.5(MSH3):c.708C>G (p.Tyr236Ter) rs1580550290
NM_002439.5(MSH3):c.712del (p.Glu238fs)
NM_002439.5(MSH3):c.747T>A (p.Cys249Ter) rs1272356369
NM_002439.5(MSH3):c.762T>A (p.Tyr254Ter) rs1749675730
NM_002439.5(MSH3):c.763A>T (p.Lys255Ter)
NM_002439.5(MSH3):c.777_778insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAAGTATAGATTCTTT (p.Gly260delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer) rs2112812386
NM_002439.5(MSH3):c.781del (p.Glu261fs)
NM_002439.5(MSH3):c.790G>T (p.Glu264Ter) rs766997264
NM_002439.5(MSH3):c.817_820del (p.Tyr273fs)
NM_002439.5(MSH3):c.827del (p.His275_Leu276insTer) rs2112813769
NM_002439.5(MSH3):c.845del (p.Thr282fs)
NM_002439.5(MSH3):c.873_876del (p.Val292fs) rs763478027
NM_002439.5(MSH3):c.900del (p.Gly301fs)

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