ClinVar Miner

List of variants in gene MSH3 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 128
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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.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.1992del (p.Gln664fs) rs1328242717 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.2845C>T (p.Gln949Ter) rs758546167 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
NC_000005.10:g.80761547del
NC_000005.10:g.80854130del
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.1097_1100dup (p.Tyr367Ter)
NM_002439.5(MSH3):c.1116del (p.Glu373fs) rs2112816043
NM_002439.5(MSH3):c.1126G>T (p.Glu376Ter)
NM_002439.5(MSH3):c.1130_1132delinsTT (p.Asn377fs)
NM_002439.5(MSH3):c.1131_1134del (p.Asn377fs)
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.1161del (p.Phe387fs)
NM_002439.5(MSH3):c.1180C>T (p.Gln394Ter)
NM_002439.5(MSH3):c.1235C>G (p.Ser412Ter)
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.1310_1311del (p.Glu437fs) rs757194485
NM_002439.5(MSH3):c.1324del (p.Arg442fs)
NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter) rs963234468
NM_002439.5(MSH3):c.1376del (p.Asp459fs)
NM_002439.5(MSH3):c.1395C>G (p.Tyr465Ter)
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs) rs778610412
NM_002439.5(MSH3):c.1484T>A (p.Leu495Ter)
NM_002439.5(MSH3):c.1489A>T (p.Lys497Ter)
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.1579C>T (p.Gln527Ter) rs1204734473
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) rs775863622
NM_002439.5(MSH3):c.1644del (p.Gln549fs) rs2112866857
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs) rs1580597397
NM_002439.5(MSH3):c.1660_1661del (p.Met554fs)
NM_002439.5(MSH3):c.1679del (p.Leu560fs)
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.1749del (p.Leu584fs)
NM_002439.5(MSH3):c.1772del (p.Asn591fs) rs1580027407
NM_002439.5(MSH3):c.1871del (p.Gly624fs)
NM_002439.5(MSH3):c.1900del (p.Ser634fs)
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs) rs1580033751
NM_002439.5(MSH3):c.2018del (p.Ile672_Leu673insTer)
NM_002439.5(MSH3):c.2057T>G (p.Leu686Ter) rs1744154635
NM_002439.5(MSH3):c.2061_2062del (p.Lys687fs)
NM_002439.5(MSH3):c.2082del (p.Val696fs)
NM_002439.5(MSH3):c.2103_2106del (p.Glu701fs)
NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs) rs1455445683
NM_002439.5(MSH3):c.2141dup (p.Arg715fs) rs751236312
NM_002439.5(MSH3):c.2207_2208del (p.Ile736fs) rs2112885246
NM_002439.5(MSH3):c.2216del (p.Asn739fs) rs1580035033
NM_002439.5(MSH3):c.2227C>T (p.Gln743Ter) rs1350652736
NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs) rs1416092389
NM_002439.5(MSH3):c.2282del (p.Val761fs)
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002439.5(MSH3):c.2380C>T (p.Gln794Ter)
NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter) rs748016039
NM_002439.5(MSH3):c.242del (p.Thr81fs) rs752795642
NM_002439.5(MSH3):c.2454T>A (p.Tyr818Ter) rs1744531551
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter) rs1749286503
NM_002439.5(MSH3):c.2582dup (p.Asn861fs)
NM_002439.5(MSH3):c.260_263del (p.Lys87fs) rs756190979
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.2674dup (p.Met892fs) rs2112054145
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
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.2791delinsTC (p.Ile931fs)
NM_002439.5(MSH3):c.2807del (p.Phe936fs) rs1580066605
NM_002439.5(MSH3):c.2816_2828del (p.Met939fs)
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.2877del (p.Ala960fs)
NM_002439.5(MSH3):c.2905C>T (p.Gln969Ter)
NM_002439.5(MSH3):c.2905_2906delinsT (p.Gln969fs)
NM_002439.5(MSH3):c.292A>T (p.Lys98Ter) rs1749288232
NM_002439.5(MSH3):c.2967dup (p.Ala990fs) rs2112106614
NM_002439.5(MSH3):c.296dup (p.Lys100fs) rs1580540688
NM_002439.5(MSH3):c.2988T>G (p.Tyr996Ter)
NM_002439.5(MSH3):c.2990del (p.Phe997fs)
NM_002439.5(MSH3):c.302_306del (p.Val101fs) rs1749288569
NM_002439.5(MSH3):c.3046G>T (p.Glu1016Ter)
NM_002439.5(MSH3):c.3064_3067del (p.Ser1022fs)
NM_002439.5(MSH3):c.307_310del (p.Lys103fs) rs1259647122
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter) rs149350323
NM_002439.5(MSH3):c.322G>T (p.Glu108Ter)
NM_002439.5(MSH3):c.347_348del (p.Ser116fs)
NM_002439.5(MSH3):c.392C>G (p.Ser131Ter) rs2112808726
NM_002439.5(MSH3):c.460_461del (p.Glu154fs) rs1580546655
NM_002439.5(MSH3):c.513del (p.Asp171fs) rs1749544783
NM_002439.5(MSH3):c.565C>T (p.Gln189Ter) rs1580546793
NM_002439.5(MSH3):c.586del (p.Thr196fs) rs771721952
NM_002439.5(MSH3):c.593_594del (p.Leu197_Phe198insTer)
NM_002439.5(MSH3):c.594del (p.Phe198fs) rs2112812135
NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)
NM_002439.5(MSH3):c.640C>T (p.Gln214Ter) rs952650934
NM_002439.5(MSH3):c.702dup (p.Gln235fs)
NM_002439.5(MSH3):c.703C>T (p.Gln235Ter) rs371356175
NM_002439.5(MSH3):c.739del (p.Val247fs)
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.781del (p.Glu261fs)
NM_002439.5(MSH3):c.790G>T (p.Glu264Ter) rs766997264
NM_002439.5(MSH3):c.819T>G (p.Tyr273Ter)
NM_002439.5(MSH3):c.827del (p.His275_Leu276insTer) rs2112813769
NM_002439.5(MSH3):c.873_876del (p.Val292fs) rs763478027

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