ClinVar Miner

List of variants in gene MSH6 reported as likely pathogenic for endometrial carcinoma

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 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_000179.3(MSH6):c.3801+1G>T rs876660943 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.1531A>G (p.Arg511Gly)
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.1639del (p.Glu547fs) rs1572723786
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.1951_1952dup (p.Gly652fs) rs2104378465
NM_000179.3(MSH6):c.1991C>A (p.Ser664Ter) rs1553413355
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>C (p.Tyr969Ser) rs63749919
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.3416G>T (p.Gly1139Val) rs1316409501
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.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs) rs1114167783
NM_000179.3(MSH6):c.3849del (p.Thr1284fs) rs1064793781
NM_000179.3(MSH6):c.3850_3860del (p.Ile1283_Thr1284insTer)
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.4001G>A (p.Arg1334Gln) rs267608122
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

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