ClinVar Miner

List of variants in gene MSH6 reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys) rs587782386 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe) rs876660151 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.4053_4081dup (p.*1361Leuext*3) rs2104583584 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000179.2:c.1826_1827insALU
NM_000179.2:c.3311_3312insSVA
NM_000179.2:c.3510_3511insALU
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.3(MSH6):c.1147AGG[2] (p.Arg385del) rs267608043
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys) rs587782706
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.2054G>A (p.Gly685Asp)
NM_000179.3(MSH6):c.2295C>G (p.Cys765Trp) rs63750985
NM_000179.3(MSH6):c.2333T>C (p.Leu778Pro)
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser) rs587779235
NM_000179.3(MSH6):c.2375T>C (p.Leu792Pro) rs587779236
NM_000179.3(MSH6):c.2392_2394del (p.Leu798del)
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn) rs765873566
NM_000179.3(MSH6):c.2559G>T (p.Lys853Asn)
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu) rs587781306
NM_000179.3(MSH6):c.261-2del
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg) rs876660185
NM_000179.3(MSH6):c.2874_2885del (p.Gln958_Ile962delinsHis) rs1572729044
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.3023C>T (p.Thr1008Ile) rs1558667779
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3172G>T (p.Asp1058Tyr)
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3173-1G>A rs397515875
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3173-1del
NM_000179.3(MSH6):c.3173-2A>C rs1553331242
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer) rs1114167695
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser) rs63751063
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp) rs1316409501
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.3(MSH6):c.3438+2T>C rs1033749344
NM_000179.3(MSH6):c.3438G>C (p.Gln1146His) rs1114167759
NM_000179.3(MSH6):c.3438G>T (p.Gln1146His)
NM_000179.3(MSH6):c.3452C>A (p.Ala1151Asp) rs587782625
NM_000179.3(MSH6):c.3461C>A (p.Ala1154Asp) rs786202842
NM_000179.3(MSH6):c.3464A>G (p.Gln1155Arg) rs1572738445
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) rs63751427
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3556+2T>C rs1669882321
NM_000179.3(MSH6):c.3556+3_3556+13del rs587779269
NM_000179.3(MSH6):c.3556+3_3556+6del
NM_000179.3(MSH6):c.3556+4_3556+8del rs1572739119
NM_000179.3(MSH6):c.3557-1G>A
NM_000179.3(MSH6):c.3557-1G>T rs1114167723
NM_000179.3(MSH6):c.3557-2A>C
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3632T>G (p.Leu1211Arg)
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646+1del
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3646+2T>G
NM_000179.3(MSH6):c.3646G>A (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.3(MSH6):c.3683_3691del (p.Ala1228_Ala1230del) rs2104538620
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del) rs587779284
NM_000179.3(MSH6):c.36dup (p.Lys13fs) rs2103932294
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro) rs1553333039
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3791_3801+25del
NM_000179.3(MSH6):c.3801+1G>A
NM_000179.3(MSH6):c.3801+1del rs1553333185
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.3(MSH6):c.3851_3871del (p.Thr1284_Ile1290del) rs1572746651
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs)
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs) rs1670120965
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs) rs587779295
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup) rs1670125444
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs) rs1553333633
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg) rs773675555
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu) rs876661174
NM_000179.3(MSH6):c.3948_3953delinsCC (p.His1317fs)
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.3(MSH6):c.3957_3958dup (p.Ala1320fs)
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.4000_4001+20del
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.4001+1G>T
NM_000179.3(MSH6):c.4001+1_4001+25del
NM_000179.3(MSH6):c.4001+2T>A rs267608131
NM_000179.3(MSH6):c.4002-1G>A rs1302369946
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.3(MSH6):c.4005_4008dup (p.Cys1337fs) rs1670208407
NM_000179.3(MSH6):c.457+1G>T rs2104112957
NM_000179.3(MSH6):c.457+2dup rs876661224
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg) rs1060502885
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys) rs1060502885

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