ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome 5 by Myriad Genetics, Inc.

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ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn) rs587779272 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg) rs2104330278
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.1304T>C (p.Leu435Pro) rs63751405
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp) rs1669344619
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp) rs1553413050
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro) rs1553413288
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg) rs587779228
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro) rs863224623
NM_000179.3(MSH6):c.260+1G>C rs1553408467
NM_000179.3(MSH6):c.260+2T>C rs1553408469
NM_000179.3(MSH6):c.260+2T>G rs1553408469
NM_000179.3(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.3(MSH6):c.261-2A>C
NM_000179.3(MSH6):c.261-2A>T rs2104098003
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.3(MSH6):c.3172+1G>A rs587779255
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3173-1G>A rs397515875
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3173-1del rs2530757487
NM_000179.3(MSH6):c.3173-2A>C rs1553331242
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys) rs2104485089
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.3417C>T (p.Gly1139=) rs876660283
NM_000179.3(MSH6):c.3438+1G>A rs267608096
NM_000179.3(MSH6):c.3438+1G>C rs267608096
NM_000179.3(MSH6):c.3438+1G>T rs267608096
NM_000179.3(MSH6):c.3438+2T>A
NM_000179.3(MSH6):c.3438+2T>C rs1033749344
NM_000179.3(MSH6):c.3455_3487del (p.Val1152_Ala1162del) rs2530799214
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg) rs1669872142
NM_000179.3(MSH6):c.3554_3556+2del rs2104510085
NM_000179.3(MSH6):c.3556+1G>A rs1060502926
NM_000179.3(MSH6):c.3556+1G>T rs1060502926
NM_000179.3(MSH6):c.3556+1del rs1064793489
NM_000179.3(MSH6):c.3556+2T>G rs1669882321
NM_000179.3(MSH6):c.3557-1G>A rs1114167723
NM_000179.3(MSH6):c.3557-1G>C rs1114167723
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro) rs1114167688
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3644_3646+5del rs2530825916
NM_000179.3(MSH6):c.3645_3646+3delinsCGTT rs2530826030
NM_000179.3(MSH6):c.3646+1G>A rs1553332772
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646+1dup rs1553332768
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3646+2T>G rs1553332776
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3647-1G>C rs587779279
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3798_3801+9del rs1553333168
NM_000179.3(MSH6):c.3801+1G>A rs876660943
NM_000179.3(MSH6):c.3801+1_3801+5del rs1553333175
NM_000179.3(MSH6):c.3801+1del rs1553333185
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
NM_000179.3(MSH6):c.3802-14_3809del rs2530853505
NM_000179.3(MSH6):c.3802-15_3802delinsAAGCTAATAGCA rs2530853615
NM_000179.3(MSH6):c.3802-1G>C rs1572746025
NM_000179.3(MSH6):c.3802-2A>G rs2104550873
NM_000179.3(MSH6):c.3856_3872dup (p.Lys1291fs) rs2530861573
NM_000179.3(MSH6):c.3865_3887dup (p.Lys1296fs) rs2530862914
NM_000179.3(MSH6):c.3922_3953dup (p.Arg1318fs) rs2530870276
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs) rs878853742
NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter) rs749522534
NM_000179.3(MSH6):c.3958_3986dup (p.Ser1329_Leu1330insGlnGluAsnLeuArgArgTer) rs2530875400
NM_000179.3(MSH6):c.3971_3983dup (p.Ser1329fs) rs2530877069
NM_000179.3(MSH6):c.3980_3983del (p.Asn1327fs) rs1553333738
NM_000179.3(MSH6):c.4001+1G>A rs1114167729
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu) rs267608122
NM_000179.3(MSH6):c.4002-2A>G rs878853745
NM_000179.3(MSH6):c.457+1G>A rs2104112957
NM_000179.3(MSH6):c.457+1del rs876661125
NM_000179.3(MSH6):c.457+2T>G rs267608036
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser) rs1060502885
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg) rs1060502885
NM_000179.3(MSH6):c.458-1G>A rs267608035
NM_000179.3(MSH6):c.458-1G>T rs267608035
NM_000179.3(MSH6):c.458-2A>C rs2104227716
NM_000179.3(MSH6):c.616_627+37delinsC rs2530524190
NM_000179.3(MSH6):c.627+1G>A rs1572716545
NM_000179.3(MSH6):c.627+1dup rs2104241415
NM_000179.3(MSH6):c.627+2_627+11del rs2530524918
NM_000179.3(MSH6):c.628-2A>C rs1114167725

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