ClinVar Miner

List of variants reported as likely pathogenic for Familial adenomatous polyposis 2

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ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) rs1060501346 0.00003
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.115+1G>A rs1330675110 0.00001
NM_001048174.2(MUTYH):c.1434+1G>C rs876659420 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro) rs761763725 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln) rs533899702 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter) rs1064796630 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001128425.2(MUTYH):c.36+1G>A rs1553136984 0.00001
NM_001128425.2(MUTYH):c.36+3A>T rs759654665 0.00001
NC_000001.10:g.(?_45794978)_(45795123_?)del
NC_000001.10:g.(?_45796178)_(45796257_?)del
NC_000001.10:g.(?_45800053)_(45800193_?)dup
NC_000001.10:g.(?_45800057)_(45800189_?)dup
NC_000001.11:g.(?_45329300)_(45330563_?)del
NC_000001.11:g.45331557del
NM_001048174.2(MUTYH):c.-6-2A>T
NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs) rs768130289
NM_001048174.2(MUTYH):c.1033dup (p.Ala345fs)
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1087dup (p.Gln363fs)
NM_001048174.2(MUTYH):c.1103-32_1115del rs886039606
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) rs863224501
NM_001048174.2(MUTYH):c.1130del (p.Pro377fs)
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.115+2T>G
NM_001048174.2(MUTYH):c.116-8_124delinsTCAGCCG
NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter) rs1437789978
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) rs1060501321
NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) rs1553125766
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) rs1060501325
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs) rs1064795480
NM_001048174.2(MUTYH):c.1239+1G>T rs1644818073
NM_001048174.2(MUTYH):c.1240-1G>A rs876660837
NM_001048174.2(MUTYH):c.1240-1G>C
NM_001048174.2(MUTYH):c.1240-2A>G
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs) rs876659414
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp) rs786202133
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)
NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) rs1553125100
NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer)
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) rs1553125075
NM_001048174.2(MUTYH):c.1322_1323del (p.Val441fs) rs2149112658
NM_001048174.2(MUTYH):c.1323_1332dup (p.Ala445fs) rs2149112377
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs) rs1553124893
NM_001048174.2(MUTYH):c.1392_1392+6del rs864621967
NM_001048174.2(MUTYH):c.1393-1G>A rs1057517459
NM_001048174.2(MUTYH):c.1393-2A>G
NM_001048174.2(MUTYH):c.1393-2_1393-1del rs1570346782
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.1405dup (p.Tyr469fs)
NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter) rs1644624908
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001048174.2(MUTYH):c.1418del (p.Gln473fs)
NM_001048174.2(MUTYH):c.1428_1430del (p.Cys477del)
NM_001048174.2(MUTYH):c.1434+1G>T rs876659420
NM_001048174.2(MUTYH):c.1434+2T>C rs2149102678
NM_001048174.2(MUTYH):c.1434+2del rs2149102703
NM_001048174.2(MUTYH):c.1435-2A>G rs1553123105
NM_001048174.2(MUTYH):c.1446_1479del (p.Arg482fs)
NM_001048174.2(MUTYH):c.1446del (p.Arg482fs) rs2149090006
NM_001048174.2(MUTYH):c.1457_1487del (p.Ser486fs) rs2149088820
NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs) rs1553123017
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.1468del (p.Ser490fs) rs878854186
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.169C>G (p.His57Asp)
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.241C>G (p.Arg81Gly) rs765123255
NM_001048174.2(MUTYH):c.247C>G (p.Leu83Val) rs2149172338
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro) rs1557485553
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs) rs878854189
NM_001048174.2(MUTYH):c.264+1G>A rs1553130042
NM_001048174.2(MUTYH):c.264+1G>T rs1553130042
NM_001048174.2(MUTYH):c.304+1G>A
NM_001048174.2(MUTYH):c.304+2T>C
NM_001048174.2(MUTYH):c.304+2T>G
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs) rs1553129652
NM_001048174.2(MUTYH):c.310del (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.376C>T (p.Gln126Ter)
NM_001048174.2(MUTYH):c.378+1G>A
NM_001048174.2(MUTYH):c.378+1G>T rs1645259682
NM_001048174.2(MUTYH):c.378+1del
NM_001048174.2(MUTYH):c.378+2T>G rs1553129521
NM_001048174.2(MUTYH):c.379-1G>A rs1057520660
NM_001048174.2(MUTYH):c.379-4_382del
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) rs876660787
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.420+1_493-25del rs1645164432
NM_001048174.2(MUTYH):c.420+2T>C rs587782730
NM_001048174.2(MUTYH):c.420+2T>G rs587782730
NM_001048174.2(MUTYH):c.421-1G>A
NM_001048174.2(MUTYH):c.421-2A>G rs786203161
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter) rs1645192561
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.493-1G>A rs1423002555
NM_001048174.2(MUTYH):c.493-2A>G rs1553128663
NM_001048174.2(MUTYH):c.509_512del (p.Gly170fs)
NM_001048174.2(MUTYH):c.516dup (p.Met173fs)
NM_001048174.2(MUTYH):c.606+1G>A
NM_001048174.2(MUTYH):c.606+1G>T rs878854193
NM_001048174.2(MUTYH):c.607-1G>A rs1557474906
NM_001048174.2(MUTYH):c.607-2A>C
NM_001048174.2(MUTYH):c.607-2A>T rs1361763237
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly) rs587782885
NM_001048174.2(MUTYH):c.695_705-10del rs1557472384
NM_001048174.2(MUTYH):c.704+1G>C
NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser) rs1570406302
NM_001048174.2(MUTYH):c.705-2A>C rs1645057147
NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) rs876659676
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001048174.2(MUTYH):c.849+1G>A
NM_001048174.2(MUTYH):c.849+1G>T rs2149136521
NM_001048174.2(MUTYH):c.849+2T>A
NM_001048174.2(MUTYH):c.849+2T>G rs1060501333
NM_001048174.2(MUTYH):c.850-1G>A
NM_001048174.2(MUTYH):c.867_868del (p.Leu290fs) rs2149134563
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs) rs1645561773
NM_001048174.2(MUTYH):c.913+1G>A rs2149133294
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
NM_001048174.2(MUTYH):c.942_1042del (p.Leu315fs)
NM_001048174.2(MUTYH):c.957_958del (p.Glu319fs)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001048174.2(MUTYH):c.980dup (p.Val328fs)
NM_001048174.2(MUTYH):c.994del (p.Arg332fs) rs1057517456
NM_001128425.2(MUTYH):c.158-2A>G rs587782066
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) rs1064795596
NM_001128425.2(MUTYH):c.36+1G>T
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) rs767402084

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