ClinVar Miner

List of variants reported as likely pathogenic for uterine disorder by Baylor Genetics

Included ClinVar conditions (62):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
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.1764-1G>A rs367544716 0.00003
NM_002439.5(MSH3):c.2803del (p.Ile935fs) rs766672143 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_002439.5(MSH3):c.2695_2696del (p.Met899fs) rs1204002507 0.00002
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2972C>T (p.Pro991Leu) rs375966384 0.00001
NM_000179.3(MSH6):c.3154G>T (p.Glu1052Ter) rs765763906 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter) rs139170496 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.136C>T (p.Gln46Ter) rs779180469 0.00001
NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter) rs1398195482 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.2179C>T (p.Arg727Ter) rs376667075 0.00001
NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter) rs770330684 0.00001
NM_002439.5(MSH3):c.237+2T>C rs1480047980 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.2845C>T (p.Gln949Ter) rs758546167 0.00001
NM_002439.5(MSH3):c.3130+3A>G rs768841078 0.00001
NM_002439.5(MSH3):c.358+2T>G rs1450314617 0.00001
NM_002439.5(MSH3):c.724C>T (p.Gln242Ter) rs772046189 0.00001
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter) rs770190473 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
NM_002439.5(MSH3):c.978_984del (p.Phe326fs) rs1475633334 0.00001
NM_000179.3(MSH6):c.1010dup (p.Leu337fs)
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter) rs1114167731
NM_000179.3(MSH6):c.1168_1211dup (p.Asn404fs)
NM_000179.3(MSH6):c.1248del (p.Lys417fs)
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter) rs1553412720
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.3(MSH6):c.1359del (p.Gly454fs)
NM_000179.3(MSH6):c.136_158del (p.Gly46fs)
NM_000179.3(MSH6):c.1392del (p.Ile464fs) rs2104340974
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs) rs1114167715
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter) rs587782706
NM_000179.3(MSH6):c.1515T>A (p.Tyr505Ter) rs878853704
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter) rs1114167719
NM_000179.3(MSH6):c.1552dup (p.Thr518fs)
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)
NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter) rs63749973
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter) rs1669365820
NM_000179.3(MSH6):c.1751dup (p.Leu585fs)
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)
NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)
NM_000179.3(MSH6):c.185_186del (p.Arg62fs)
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.1901_1910del (p.Leu634fs)
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter) rs1064795591
NM_000179.3(MSH6):c.1933del (p.Glu645fs) rs1558663559
NM_000179.3(MSH6):c.1937del (p.Lys646fs) rs1114167747
NM_000179.3(MSH6):c.1938_1942delinsTATTCTT (p.Lys646fs)
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer) rs1572725235
NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer) rs1060502918
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs) rs876661025
NM_000179.3(MSH6):c.2419dup (p.Glu807fs) rs1553413784
NM_000179.3(MSH6):c.2500_2501del (p.Gln835fs) rs1064794164
NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)
NM_000179.3(MSH6):c.2646dup (p.Lys883Ter)
NM_000179.3(MSH6):c.2790dup (p.Ala931fs)
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter) rs587779253
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3038dup (p.Lys1014fs)
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter) rs1114167707
NM_000179.3(MSH6):c.3089del (p.Lys1030fs)
NM_000179.3(MSH6):c.3149_3168dup (p.Leu1057_Asp1058insTer)
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer) rs1175196087
NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter) rs778741297
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer) rs63749821
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
NM_000179.3(MSH6):c.336_337dup (p.His113fs)
NM_000179.3(MSH6):c.3438+2T>G
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter) rs1057517763
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.3(MSH6):c.3518dup (p.Phe1174fs)
NM_000179.3(MSH6):c.3556+1del rs1064793489
NM_000179.3(MSH6):c.356dup (p.Ile120fs) rs1114167776
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs) rs1060502881
NM_000179.3(MSH6):c.3611dup (p.Thr1205fs)
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
NM_000179.3(MSH6):c.364G>T (p.Glu122Ter)
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3699del (p.Glu1234fs) rs1558392033
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3729_3767dup (p.Tyr1256Ter)
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3789_3790insTAGC (p.Leu1264Ter) rs1114167717
NM_000179.3(MSH6):c.3802-1G>A rs1572746025
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs) rs1553333321
NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)
NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs) rs1114167783
NM_000179.3(MSH6):c.3849del (p.Thr1284fs) rs1064793781
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs) rs1553333500
NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter) rs1553333594
NM_000179.3(MSH6):c.3954_3957dup (p.Ala1320fs)
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs) rs886044911
NM_000179.3(MSH6):c.3973A>T (p.Lys1325Ter) rs1060502937
NM_000179.3(MSH6):c.3986C>A (p.Ser1329Ter)
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.442_443del (p.Leu148fs) rs1060502875
NM_000179.3(MSH6):c.552_555del (p.Asn184fs) rs1023534466
NM_000179.3(MSH6):c.58dup (p.Ala20fs) rs1553408136
NM_000179.3(MSH6):c.675dup (p.Glu226Ter)
NM_000179.3(MSH6):c.688G>T (p.Glu230Ter)
NM_000179.3(MSH6):c.688del (p.Glu230fs) rs1669245178
NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer) rs1553412120
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer) rs1114167704
NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter) rs1057520605
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs) rs1114167748
NM_000179.3(MSH6):c.884_885del (p.Lys295fs)
NM_000179.3(MSH6):c.900del (p.Lys301fs) rs863225421
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter) rs1572720794
NM_000179.3(MSH6):c.999del (p.Lys334fs) rs1060502932
NM_002439.5(MSH3):c.1017_1018insC (p.Ile340fs)
NM_002439.5(MSH3):c.1040del (p.Leu347fs) rs1580553624
NM_002439.5(MSH3):c.1087dup (p.Thr363fs) rs1234762807
NM_002439.5(MSH3):c.1116del (p.Glu373fs) rs2112816043
NM_002439.5(MSH3):c.1148dup (p.Asn385fs) rs587776701
NM_002439.5(MSH3):c.1173+1G>A rs928721752
NM_002439.5(MSH3):c.1174-1G>A
NM_002439.5(MSH3):c.1237G>T (p.Glu413Ter)
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.1308_1309insAA (p.Glu437fs)
NM_002439.5(MSH3):c.1309G>T (p.Glu437Ter)
NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs) rs757194485
NM_002439.5(MSH3):c.131_138del (p.Ala44fs) rs2112797412
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs) rs778610412
NM_002439.5(MSH3):c.1428T>G (p.Tyr476Ter)
NM_002439.5(MSH3):c.146del (p.Pro49fs) rs1580538168
NM_002439.5(MSH3):c.1499_1502dup (p.Ser502fs) rs1743353294
NM_002439.5(MSH3):c.14del (p.Lys5fs) rs1749186228
NM_002439.5(MSH3):c.1526dup (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.1554_1558delinsCCTA (p.Met518fs) rs1743355453
NM_002439.5(MSH3):c.15del (p.Lys5fs)
NM_002439.5(MSH3):c.1611_1614del (p.Ile537fs) rs2112866803
NM_002439.5(MSH3):c.161del (p.Ala54fs)
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) rs775863622
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs) rs1580597397
NM_002439.5(MSH3):c.1653+2T>A
NM_002439.5(MSH3):c.1654-12G>A rs1310432892
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter) rs1395288001
NM_002439.5(MSH3):c.169_196del (p.Ala57fs)
NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter) rs2112868963
NM_002439.5(MSH3):c.1808C>A (p.Ser603Ter)
NM_002439.5(MSH3):c.1828C>T (p.Gln610Ter) rs1360794165
NM_002439.5(MSH3):c.1877_1878del (p.Leu625_Cys626insTer) rs1260807695
NM_002439.5(MSH3):c.1896+1G>A rs1330593620
NM_002439.5(MSH3):c.1896+2T>A
NM_002439.5(MSH3):c.1896+2T>C rs1580027713
NM_002439.5(MSH3):c.1897-1G>A rs1744149615
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs) rs1580033751
NM_002439.5(MSH3):c.200dup (p.Ala68fs)
NM_002439.5(MSH3):c.2057_2066del (p.Leu686fs) rs766122076
NM_002439.5(MSH3):c.2085-2A>G
NM_002439.5(MSH3):c.211_218dup (p.Gln74fs)
NM_002439.5(MSH3):c.211_230dup (p.His78fs) rs1749219575
NM_002439.5(MSH3):c.2141dup (p.Arg715fs) rs751236312
NM_002439.5(MSH3):c.215del (p.Pro72fs)
NM_002439.5(MSH3):c.220C>T (p.Gln74Ter)
NM_002439.5(MSH3):c.2253+3_2253+7del rs1488467945
NM_002439.5(MSH3):c.2254-2A>G
NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs) rs1416092389
NM_002439.5(MSH3):c.2300_2303del (p.Asp767fs) rs1462955256
NM_002439.5(MSH3):c.238-1G>A rs1749285930
NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter) rs748016039
NM_002439.5(MSH3):c.2421G>A (p.Trp807Ter) rs1744356274
NM_002439.5(MSH3):c.242del (p.Thr81fs) rs752795642
NM_002439.5(MSH3):c.2452del (p.Tyr818fs)
NM_002439.5(MSH3):c.247del (p.Ile83fs)
NM_002439.5(MSH3):c.2492_2493del (p.Val831fs)
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter) rs1749286503
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.2655+1G>A rs1580053768
NM_002439.5(MSH3):c.2668_2671del (p.Glu889_Arg890insTer) rs1561486632
NM_002439.5(MSH3):c.2673_2680delinsT (p.Met892fs)
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002439.5(MSH3):c.2871_2874del (p.Asp958fs) rs1580091499
NM_002439.5(MSH3):c.292A>T (p.Lys98Ter) rs1749288232
NM_002439.5(MSH3):c.296dup (p.Lys100fs) rs1580540688
NM_002439.5(MSH3):c.3022del (p.Val1008fs)
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.3172C>T (p.Gln1058Ter)
NM_002439.5(MSH3):c.3250A>T (p.Lys1084Ter)
NM_002439.5(MSH3):c.392del (p.Val130_Ser131insTer) rs1743016889
NM_002439.5(MSH3):c.408del (p.Lys136fs)
NM_002439.5(MSH3):c.466_467dup (p.Gln157fs)
NM_002439.5(MSH3):c.565C>T (p.Gln189Ter) rs1580546793
NM_002439.5(MSH3):c.579+1G>A rs2112809006
NM_002439.5(MSH3):c.580-2A>G rs550048787
NM_002439.5(MSH3):c.586del (p.Thr196fs) rs771721952
NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)
NM_002439.5(MSH3):c.669del (p.Lys223fs)
NM_002439.5(MSH3):c.703C>T (p.Gln235Ter) rs371356175
NM_002439.5(MSH3):c.790G>T (p.Glu264Ter) rs766997264
NM_002439.5(MSH3):c.845del (p.Thr282fs)
NM_002439.5(MSH3):c.873_876del (p.Val292fs) rs763478027
NM_002439.5(MSH3):c.96delinsCT (p.Gly32_Ser33insTer)

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