ClinVar Miner

List of variants in gene MSH3 studied for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_002439.5(MSH3):c.2480A>G (p.His827Arg) rs138339194 0.00191
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) rs115198722 0.00112
NM_002439.5(MSH3):c.2016T>G (p.Ile672Met) rs139593361 0.00046
NM_002439.5(MSH3):c.1394A>G (p.Tyr465Cys) rs35009542 0.00032
NM_002439.5(MSH3):c.287C>T (p.Pro96Leu) rs373436584 0.00028
NM_002439.5(MSH3):c.2336G>A (p.Arg779His) rs199791286 0.00013
NM_002439.5(MSH3):c.2044G>C (p.Val682Leu) rs145657887 0.00012
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly) rs746782115 0.00012
NM_002439.5(MSH3):c.316C>G (p.Gln106Glu) rs149350323 0.00010
NM_002439.5(MSH3):c.2695A>G (p.Met899Val) rs756956247 0.00007
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter) rs374133543 0.00004
NM_002439.5(MSH3):c.1721G>A (p.Arg574Gln) rs776668872 0.00003
NM_002439.5(MSH3):c.1764-1G>A rs367544716 0.00003
NM_002439.5(MSH3):c.2006G>A (p.Arg669Gln) rs372048303 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.2972A>G (p.Tyr991Cys) rs766742870 0.00002
NM_002439.5(MSH3):c.1078A>G (p.Met360Val) rs1260085751 0.00001
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter) rs139170496 0.00001
NM_002439.5(MSH3):c.1261C>G (p.Leu421Val) rs750697976 0.00001
NM_002439.5(MSH3):c.1341-2A>G rs750876165 0.00001
NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter) rs539295465 0.00001
NM_002439.5(MSH3):c.1366G>A (p.Glu456Lys) rs963234468 0.00001
NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter) rs1398195482 0.00001
NM_002439.5(MSH3):c.1453+5A>C rs1743273324 0.00001
NM_002439.5(MSH3):c.1454-2A>G rs1554070317 0.00001
NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter) rs758191157 0.00001
NM_002439.5(MSH3):c.1764-2A>G rs773032453 0.00001
NM_002439.5(MSH3):c.1778G>A (p.Arg593Gln) rs764832633 0.00001
NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys) rs759247521 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.2185C>G (p.His729Asp) rs145353158 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.238-2A>G rs1749285874 0.00001
NM_002439.5(MSH3):c.2396T>G (p.Leu799Arg) rs555670202 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.3341A>G (p.His1114Arg) rs1158289237 0.00001
NM_002439.5(MSH3):c.358+2T>G rs1450314617 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.792+1G>A rs749929790 0.00001
NM_002439.5(MSH3):c.802C>T (p.Arg268Ter) rs201033017 0.00001
NM_002439.5(MSH3):c.884G>A (p.Arg295His) rs771713082 0.00001
NC_000005.10:g.80854130del
NM_002439.5(MSH3):c.1028-1A>T rs1008382885
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.1070A>T (p.Asp357Val)
NM_002439.5(MSH3):c.1087dup (p.Thr363fs) rs1234762807
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002439.5(MSH3):c.1148dup (p.Asn385fs) rs587776701
NM_002439.5(MSH3):c.1173+1_1173+5del
NM_002439.5(MSH3):c.1190del (p.Thr397fs)
NM_002439.5(MSH3):c.1254dup (p.Ser419fs)
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.1303C>T (p.Gln435Ter)
NM_002439.5(MSH3):c.1305_1308del (p.Thr436fs)
NM_002439.5(MSH3):c.1308_1309insAA (p.Glu437fs)
NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs) rs757194485
NM_002439.5(MSH3):c.1348del (p.Asp450fs)
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.1418_1419del (p.Thr473fs) rs772520703
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs) rs778610412
NM_002439.5(MSH3):c.1426T>C (p.Tyr476His) rs758556156
NM_002439.5(MSH3):c.1439del (p.Thr480fs)
NM_002439.5(MSH3):c.1454-1G>T
NM_002439.5(MSH3):c.1454-5del rs780632399
NM_002439.5(MSH3):c.1468_1469insAT (p.Ser490fs)
NM_002439.5(MSH3):c.1473dup (p.Ile492fs)
NM_002439.5(MSH3):c.1499_1502dup (p.Ser502fs) rs1743353294
NM_002439.5(MSH3):c.1510_1513del (p.Ala504fs)
NM_002439.5(MSH3):c.1524del (p.Lys508fs) rs1580589397
NM_002439.5(MSH3):c.1527C>G (p.Tyr509Ter)
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter) rs1379605717
NM_002439.5(MSH3):c.1536del (p.Glu512fs)
NM_002439.5(MSH3):c.1538del (p.Phe513fs)
NM_002439.5(MSH3):c.1546G>T (p.Glu516Ter)
NM_002439.5(MSH3):c.1554_1558delinsCCTA (p.Met518fs) rs1743355453
NM_002439.5(MSH3):c.1568+1G>C
NM_002439.5(MSH3):c.1575dup (p.Lys526Ter) rs2112866746
NM_002439.5(MSH3):c.1611_1614del (p.Ile537fs) rs2112866803
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) rs775863622
NM_002439.5(MSH3):c.1636dup (p.Glu546fs)
NM_002439.5(MSH3):c.1644del (p.Gln549fs) rs2112866857
NM_002439.5(MSH3):c.1645C>T (p.Gln549Ter)
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs) rs1580597397
NM_002439.5(MSH3):c.1653+1G>A rs550626088
NM_002439.5(MSH3):c.1653+2_1653+3delinsGT
NM_002439.5(MSH3):c.1679del (p.Leu560fs)
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter) rs1395288001
NM_002439.5(MSH3):c.1709C>G (p.Ser570Ter)
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.1744C>T (p.Gln582Ter) rs750104015
NM_002439.5(MSH3):c.1758_1762del (p.Leu587fs) rs776738086
NM_002439.5(MSH3):c.1763+2T>C rs376456666
NM_002439.5(MSH3):c.1765G>T (p.Glu589Ter)
NM_002439.5(MSH3):c.1772del (p.Asn591fs) rs1580027407
NM_002439.5(MSH3):c.1828C>T (p.Gln610Ter) rs1360794165
NM_002439.5(MSH3):c.1851del (p.Lys617fs)
NM_002439.5(MSH3):c.1869_1873delinsCATTTA (p.Arg623fs)
NM_002439.5(MSH3):c.1877_1878del (p.Leu625_Cys626insTer) rs1260807695
NM_002439.5(MSH3):c.1885del (p.Tyr629fs)
NM_002439.5(MSH3):c.1890del (p.His630fs)
NM_002439.5(MSH3):c.1896+1G>A rs1330593620
NM_002439.5(MSH3):c.1896+2T>C rs1580027713
NM_002439.5(MSH3):c.1896dup (p.Cys633fs)
NM_002439.5(MSH3):c.1897-1G>A rs1744149615
NM_002439.5(MSH3):c.1914CTT[1] (p.Phe639del) rs758193305
NM_002439.5(MSH3):c.1932_1941del (p.Thr644_Leu645insTer)
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs) rs1580033751
NM_002439.5(MSH3):c.2014A>G (p.Ile672Val) rs1744152742
NM_002439.5(MSH3):c.2018T>G (p.Leu673Ter)
NM_002439.5(MSH3):c.2018del (p.Ile672_Leu673insTer)
NM_002439.5(MSH3):c.2018dup (p.Leu673fs) rs1744152835
NM_002439.5(MSH3):c.2055_2058del (p.His684_Tyr685insTer)
NM_002439.5(MSH3):c.2084+1G>A rs2112884587
NM_002439.5(MSH3):c.2092dup (p.Asp698fs)
NM_002439.5(MSH3):c.2101G>T (p.Glu701Ter)
NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs) rs1455445683
NM_002439.5(MSH3):c.2110A>T (p.Lys704Ter)
NM_002439.5(MSH3):c.2123del (p.Asp708fs)
NM_002439.5(MSH3):c.2140_2141dup (p.Lys716fs)
NM_002439.5(MSH3):c.2141del (p.Lys714fs)
NM_002439.5(MSH3):c.2141dup (p.Arg715fs) rs751236312
NM_002439.5(MSH3):c.2191C>T (p.Gln731Ter)
NM_002439.5(MSH3):c.2216dup (p.Asn739fs) rs1580035033
NM_002439.5(MSH3):c.2218C>T (p.Pro740Ser) rs931950562
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.2243C>G (p.Ser748Ter)
NM_002439.5(MSH3):c.2248C>T (p.Gln750Ter)
NM_002439.5(MSH3):c.2253+2T>A rs2112885348
NM_002439.5(MSH3):c.2253_2253+1insAT
NM_002439.5(MSH3):c.2254-2A>G
NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs) rs1416092389
NM_002439.5(MSH3):c.2285del (p.Ser762fs)
NM_002439.5(MSH3):c.2293_2294insT (p.Pro765fs)
NM_002439.5(MSH3):c.2318+5del rs779491624
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.2367C>G (p.Tyr789Ter)
NM_002439.5(MSH3):c.2367_2368del (p.Tyr789_Arg790delinsTer)
NM_002439.5(MSH3):c.238-1G>A rs1749285930
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.2412dup (p.Ala805fs)
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.2426_2427del (p.Asp809fs)
NM_002439.5(MSH3):c.2429delinsAG (p.Phe810Ter)
NM_002439.5(MSH3):c.242del (p.Thr81fs) rs752795642
NM_002439.5(MSH3):c.2435+1G>C rs1744356530
NM_002439.5(MSH3):c.2435+2T>C rs1580045730
NM_002439.5(MSH3):c.2499C>A (p.Cys833Ter)
NM_002439.5(MSH3):c.2499C>G (p.Cys833Trp) rs1744532481
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter) rs1749286503
NM_002439.5(MSH3):c.2543+1G>A rs758437568
NM_002439.5(MSH3):c.2543+2T>C
NM_002439.5(MSH3):c.254_255del (p.Arg85fs)
NM_002439.5(MSH3):c.2550_2554del (p.Val851fs)
NM_002439.5(MSH3):c.2554C>T (p.Gln852Ter)
NM_002439.5(MSH3):c.2554_2561del (p.Gln852fs)
NM_002439.5(MSH3):c.2575del (p.Val858_Ile859insTer)
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.263_267del (p.Lys88fs) rs777843647
NM_002439.5(MSH3):c.2648del (p.Asp883fs) rs1580053760
NM_002439.5(MSH3):c.2654_2655+13delinsTATTTGG
NM_002439.5(MSH3):c.2655+1G>A rs1580053768
NM_002439.5(MSH3):c.2655+1G>T
NM_002439.5(MSH3):c.2668_2671del (p.Glu889_Arg890insTer) rs1561486632
NM_002439.5(MSH3):c.2670_2671dup (p.Val891fs)
NM_002439.5(MSH3):c.2673_2680delinsT (p.Met892fs)
NM_002439.5(MSH3):c.2674dup (p.Met892fs) rs2112054145
NM_002439.5(MSH3):c.2686G>A (p.Gly896Arg) rs777054839
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002439.5(MSH3):c.2735T>G (p.Ile912Ser) rs1580066484
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.2763T>A (p.Tyr921Ter)
NM_002439.5(MSH3):c.2785_2786del (p.Ile929fs)
NM_002439.5(MSH3):c.2791delinsTC (p.Ile931fs)
NM_002439.5(MSH3):c.2807del (p.Phe936fs) rs1580066605
NM_002439.5(MSH3):c.2813+1G>A rs2112054627
NM_002439.5(MSH3):c.2830_2831dup (p.Asn944fs)
NM_002439.5(MSH3):c.2830_2833del (p.Asn944fs)
NM_002439.5(MSH3):c.2838T>A (p.Tyr946Ter)
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.2914G>T (p.Val972Phe) rs2112106493
NM_002439.5(MSH3):c.2962del (p.Ala988fs)
NM_002439.5(MSH3):c.296dup (p.Lys100fs) rs1580540688
NM_002439.5(MSH3):c.2990del (p.Phe997fs)
NM_002439.5(MSH3):c.2994_3000+2del
NM_002439.5(MSH3):c.3000+1G>A
NM_002439.5(MSH3):c.3001-1G>A rs2112118327
NM_002439.5(MSH3):c.3001-2A>C rs886037878
NM_002439.5(MSH3):c.3001-2A>G rs886037878
NM_002439.5(MSH3):c.302_306del (p.Val101fs) rs1749288569
NM_002439.5(MSH3):c.3039_3042del (p.Cys1015fs)
NM_002439.5(MSH3):c.3059dup (p.Asn1020fs)
NM_002439.5(MSH3):c.3064_3067del (p.Ser1022fs)
NM_002439.5(MSH3):c.307A>T (p.Lys103Ter)
NM_002439.5(MSH3):c.3085del (p.His1029fs)
NM_002439.5(MSH3):c.309dup (p.Val104fs)
NM_002439.5(MSH3):c.3130+1G>A rs2112118578
NM_002439.5(MSH3):c.3133_3137delinsACA (p.Ala1045fs)
NM_002439.5(MSH3):c.3142C>T (p.Gln1048Ter) rs2112128589
NM_002439.5(MSH3):c.3160del (p.Thr1054fs)
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter) rs149350323
NM_002439.5(MSH3):c.3172C>T (p.Gln1058Ter)
NM_002439.5(MSH3):c.3215del (p.Val1072fs)
NM_002439.5(MSH3):c.3255_3256dup (p.Ala1086fs)
NM_002439.5(MSH3):c.3292_3295del (p.Asn1098fs)
NM_002439.5(MSH3):c.3302+1G>A
NM_002439.5(MSH3):c.3302+2T>A
NM_002439.5(MSH3):c.337delinsTT (p.Leu113fs)
NM_002439.5(MSH3):c.3382A>G (p.Met1128Val) rs1221498955
NM_002439.5(MSH3):c.347_348del (p.Ser116fs)
NM_002439.5(MSH3):c.358+1G>T
NM_002439.5(MSH3):c.359-1G>C
NM_002439.5(MSH3):c.359-2A>G
NM_002439.5(MSH3):c.392del (p.Val130_Ser131insTer) rs1743016889
NM_002439.5(MSH3):c.398C>G (p.Ser133Cys)
NM_002439.5(MSH3):c.408del (p.Lys136fs)
NM_002439.5(MSH3):c.424dup (p.Cys142fs)
NM_002439.5(MSH3):c.438_439delinsG (p.Pro147fs)
NM_002439.5(MSH3):c.442C>T (p.Gln148Ter)
NM_002439.5(MSH3):c.476_477del (p.Arg159fs)
NM_002439.5(MSH3):c.495del (p.Lys165fs)
NM_002439.5(MSH3):c.557C>A (p.Ser186Ter)
NM_002439.5(MSH3):c.565C>T (p.Gln189Ter) rs1580546793
NM_002439.5(MSH3):c.579+1G>A rs2112809006
NM_002439.5(MSH3):c.579+1G>T
NM_002439.5(MSH3):c.586del (p.Thr196fs) rs771721952
NM_002439.5(MSH3):c.593_594del (p.Leu197_Phe198insTer)
NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)
NM_002439.5(MSH3):c.640C>T (p.Gln214Ter) rs952650934
NM_002439.5(MSH3):c.703C>T (p.Gln235Ter) rs371356175
NM_002439.5(MSH3):c.708_711del (p.Gln235_Tyr236insTer)
NM_002439.5(MSH3):c.747T>A (p.Cys249Ter) rs1272356369
NM_002439.5(MSH3):c.751G>T (p.Glu251Ter)
NM_002439.5(MSH3):c.763A>T (p.Lys255Ter)
NM_002439.5(MSH3):c.781G>T (p.Glu261Ter)
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.846del (p.Ala283fs)
NM_002439.5(MSH3):c.854dup (p.Pro286fs)
NM_002439.5(MSH3):c.870dup (p.Phe291fs)
NM_002439.5(MSH3):c.873_876del (p.Val292fs) rs763478027
NM_002439.5:c.(-54_?)_(358+50_359-50)del

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