List of variants in gene MSH6 reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	rs786201042	0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	rs63749843	0.00002
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.2731C>T (p.Arg911Ter)	rs63751017	0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	rs63749999	0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)	rs63751327	0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	rs63750767	0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	rs63749873	0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	rs63750955	0.00001
NM_000179.3(MSH6):c.742del (p.Arg248fs)	rs587781691	0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)	rs146816935	0.00001
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	rs267608077
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)	rs863225398
NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)	rs762814792
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)	rs750528093
NM_000179.3(MSH6):c.1312_1381del (p.Met438fs)
NM_000179.3(MSH6):c.1352del (p.Phe451fs)	rs869312769
NM_000179.3(MSH6):c.1392del (p.Ile464fs)	rs2104340974
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)	rs63750854
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	rs587779212
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)	rs876658881
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)	rs863224829
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)	rs267608064
NM_000179.3(MSH6):c.1639del (p.Glu547fs)	rs1572723786
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)	rs864622153
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)	rs587779220
NM_000179.3(MSH6):c.1767del (p.Pro591fs)	rs1114167765
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)	rs730881816
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)	rs63750735
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)	rs63751097
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)	rs267608082
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)	rs1114167709
NM_000179.3(MSH6):c.1969del (p.Gln657fs)	rs876661205
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)	rs1553413424
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)	rs267608068
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)	rs267608083
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)	rs786204048
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	rs267608058
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)	rs63751127
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)	rs786201050
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)	rs1553413640
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	rs63750138
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)	rs587779243
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)	rs1553414010
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)	rs63750904
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)	rs1060502876
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs)	rs1553414092
NM_000179.3(MSH6):c.2749dup (p.Asp917fs)	rs1669506824
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)	rs730881827
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)	rs1114167714
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)	rs786203924
NM_000179.3(MSH6):c.292_301del (p.Ala98fs)	rs1572708580
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	rs63750563
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)	rs587782712
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)	rs1553414519
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)	rs267608042
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)	rs63750833
NM_000179.3(MSH6):c.3173-1G>C	rs397515875
NM_000179.3(MSH6):c.3173-1_3173del	rs587779256
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)	rs1060502901
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)	rs267608092
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)	rs587782562
NM_000179.3(MSH6):c.3417del (p.Lys1140fs)	rs1572736122
NM_000179.3(MSH6):c.3439-1G>T	rs587779263
NM_000179.3(MSH6):c.3439-2A>G	rs267608098
NM_000179.3(MSH6):c.3443del (p.Gly1148fs)	rs1553332151
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)	rs1114167767
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)	rs876661073
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)	rs63750194
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)	rs398123232
NM_000179.3(MSH6):c.3561_3565dup (p.Thr1189fs)	rs891318615
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)	rs864622041
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)	rs587776706
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)	rs193922343
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)	rs1064794384
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)	rs1553333072
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)	rs1670054668
NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs)	rs1558392265
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)	rs786201084
NM_000179.3(MSH6):c.3798_3801+9del	rs1553333168
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)	rs267608114
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)	rs1558393070
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)	rs63751319
NM_000179.3(MSH6):c.3889dup (p.Ser1297fs)	rs2104558375
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)	rs587779295
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)	rs760190301
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)	rs267608126
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	rs267608120
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)	rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	rs267608094
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	rs267608122
NM_000179.3(MSH6):c.423del (p.Trp142fs)	rs1114167728
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)	rs1023534466
NM_000179.3(MSH6):c.578del (p.Leu193fs)	rs587782281
NM_000179.3(MSH6):c.675_676dup (p.Glu226fs)	rs2104290462
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	rs63750019
NM_000179.3(MSH6):c.741dup (p.Arg248fs)	rs267608041
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	rs63749980
NM_000179.3(MSH6):c.809del (p.Lys270fs)	rs1114167696
NM_000179.3(MSH6):c.80_83del (p.Ala27fs)	rs1668116875
NM_000179.3(MSH6):c.908dup (p.Met303fs)	rs1057517551

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.