ClinVar Miner

List of variants in gene MUTYH reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 273
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HGVS dbSNP
NM_001048171.1(MUTYH):c.1076C>T (p.Ala359Val) rs35352891
NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) rs587778536
NM_001048171.1(MUTYH):c.1144+9A>T rs587780742
NM_001048171.1(MUTYH):c.1213G>A (p.Ala405Thr) rs587780744
NM_001048171.1(MUTYH):c.1259C>T (p.Thr420Met) rs587780084
NM_001048171.1(MUTYH):c.1261C>T (p.His421Tyr) rs141432759
NM_001048171.1(MUTYH):c.1269G>A (p.Arg423=) rs199575659
NM_001048171.1(MUTYH):c.1351C>G (p.Pro451Ala) rs375597447
NM_001048171.1(MUTYH):c.1353A>C (p.Pro451=) rs768239149
NM_001048171.1(MUTYH):c.1363G>A (p.Val455Ile) rs779701238
NM_001048171.1(MUTYH):c.1378C>T (p.Arg460Cys) rs200229669
NM_001048171.1(MUTYH):c.1423G>A (p.Ala475Thr) rs587782263
NM_001048171.1(MUTYH):c.1435-11T>G rs868701952
NM_001048171.1(MUTYH):c.1435-17C>G rs199664013
NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe) rs587782228
NM_001048171.1(MUTYH):c.1442G>A (p.Arg481His) rs144111588
NM_001048171.1(MUTYH):c.1506G>A (p.Pro502=) rs143796254
NM_001048171.1(MUTYH):c.1514G>A (p.Arg505Gln) rs369410616
NM_001048171.1(MUTYH):c.1528A>T (p.Met510Leu) rs587780080
NM_001048171.1(MUTYH):c.158-33G>A rs587781374
NM_001048171.1(MUTYH):c.158-54C>T rs367908623
NM_001048171.1(MUTYH):c.170A>G (p.Gln57Arg) rs767237971
NM_001048171.1(MUTYH):c.174G>A (p.Pro58=) rs144551668
NM_001048171.1(MUTYH):c.180G>A (p.Glu60=) rs376861118
NM_001048171.1(MUTYH):c.206C>G (p.Ser69Ter) rs370124822
NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter) rs138775799
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter) rs121908380
NM_001048171.1(MUTYH):c.306+11G>A rs139977567
NM_001048171.1(MUTYH):c.324C>T (p.Asp108=) rs876660505
NM_001048171.1(MUTYH):c.330C>T (p.Asp110=) rs730881836
NM_001048171.1(MUTYH):c.347-7C>A rs863224698
NM_001048171.1(MUTYH):c.38C>T (p.Ala13Val) rs587780747
NM_001048171.1(MUTYH):c.425G>A (p.Trp142Ter) rs762307622
NM_001048171.1(MUTYH):c.42C>T (p.Ile14=) rs202240122
NM_001048171.1(MUTYH):c.483T>C (p.Ala161=) rs786201352
NM_001048171.1(MUTYH):c.502C>T (p.Arg168Cys) rs747993448
NM_001048171.1(MUTYH):c.509G>A (p.Arg170Gln) rs758567247
NM_001048171.1(MUTYH):c.530G>A (p.Arg177Gln) rs369677603
NM_001048171.1(MUTYH):c.534+20G>A rs776504435
NM_001048171.1(MUTYH):c.565C>T (p.Arg189Cys) rs587780748
NM_001048171.1(MUTYH):c.637G>A (p.Ala213Thr) rs369854269
NM_001048171.1(MUTYH):c.63C>T (p.Ala21=) rs201982344
NM_001048171.1(MUTYH):c.654C>T (p.Thr218=) rs780747266
NM_001048171.1(MUTYH):c.672C>T (p.Asn224=) rs767327888
NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) rs587782885
NM_001048171.1(MUTYH):c.771C>T (p.Asp257=) rs730881838
NM_001048171.1(MUTYH):c.838C>T (p.Arg280Cys) rs199840380
NM_001048171.1(MUTYH):c.840C>T (p.Arg280=) rs587780750
NM_001048171.1(MUTYH):c.844C>T (p.Leu282=) rs778782508
NM_001048171.1(MUTYH):c.929C>T (p.Ser310Leu) rs558173961
NM_001048171.1(MUTYH):c.942C>T (p.Asp314=) rs587780752
NM_001048171.1(MUTYH):c.956-9C>T rs3219488
NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter) rs587780082
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu) rs587780079
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
NM_001048174.2(MUTYH):c.305-1G>C rs372267274
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419
NM_001048174.2(MUTYH):c.493-5A>T rs758377868
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp) rs587781645
NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro) rs538383136
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980
NM_001048174.2(MUTYH):c.849+3A>C rs587780751
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser) rs754178539
NM_001128425.1(MUTYH):c.1008T>C (p.Thr336=) rs924192790
NM_001128425.1(MUTYH):c.1035C>T (p.Pro345=) rs786203426
NM_001128425.1(MUTYH):c.1043C>T (p.Pro348Leu) rs780178101
NM_001128425.1(MUTYH):c.1044C>A (p.Pro348=) rs1057522889
NM_001128425.1(MUTYH):c.1076C>T (p.Pro359Leu) rs1060501323
NM_001128425.1(MUTYH):c.1164G>A (p.Leu388=) rs748664713
NM_001128425.1(MUTYH):c.1186+12C>T rs753493227
NM_001128425.1(MUTYH):c.1186+17C>T rs369034810
NM_001128425.1(MUTYH):c.1186+18G>A rs760430312
NM_001128425.1(MUTYH):c.1186+5C>G rs1553126284
NM_001128425.1(MUTYH):c.1186G>A (p.Gly396Ser) rs1064795219
NM_001128425.1(MUTYH):c.1200A>G (p.Gly400=) rs1570377075
NM_001128425.1(MUTYH):c.120T>A (p.Ala40=) rs199968813
NM_001128425.1(MUTYH):c.1218C>T (p.Ser406=) rs759460243
NM_001128425.1(MUTYH):c.1221G>C (p.Val407=) rs1553125948
NM_001128425.1(MUTYH):c.1239G>A (p.Glu413=) rs754860019
NM_001128425.1(MUTYH):c.1247A>G (p.Gln416Arg) rs730881835
NM_001128425.1(MUTYH):c.1249C>T (p.Arg417Cys) rs773370513
NM_001128425.1(MUTYH):c.1257C>G (p.Ala419=) rs1553125813
NM_001128425.1(MUTYH):c.1263G>A (p.Leu421=) rs878854184
NM_001128425.1(MUTYH):c.1287G>T (p.Gly429=) rs755651654
NM_001128425.1(MUTYH):c.1290C>T (p.Pro430=) rs752408891
NM_001128425.1(MUTYH):c.1293C>G (p.Leu431=) rs577542506
NM_001128425.1(MUTYH):c.1316T>C (p.Leu439Pro) rs587780745
NM_001128425.1(MUTYH):c.1323+13C>T rs200643518
NM_001128425.1(MUTYH):c.1323+16A>G rs1057521503
NM_001128425.1(MUTYH):c.1323+4A>C rs774494767
NM_001128425.1(MUTYH):c.1323G>A (p.Glu441=) rs587782564
NM_001128425.1(MUTYH):c.1324-20C>A rs184154021
NM_001128425.1(MUTYH):c.1324-20C>T rs184154021
NM_001128425.1(MUTYH):c.1346T>G (p.Ile449Ser) rs767996570
NM_001128425.1(MUTYH):c.1371G>T (p.Gly457=) rs1553125186
NM_001128425.1(MUTYH):c.1372C>T (p.Leu458=) rs574350006
NM_001128425.1(MUTYH):c.1430C>A (p.Thr477Lys) rs767747402
NM_001128425.1(MUTYH):c.1435G>A (p.Glu479Lys) rs376790729
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001128425.1(MUTYH):c.1464C>T (p.Thr488=) rs373973053
NM_001128425.1(MUTYH):c.1476+18T>C rs1057522867
NM_001128425.1(MUTYH):c.1476+228C>T rs3219491
NM_001128425.1(MUTYH):c.1476+3A>G rs1064796189
NM_001128425.1(MUTYH):c.1476_1476+6del rs864621967
NM_001128425.1(MUTYH):c.1477-9_1477-7del rs763940868
NM_001128425.1(MUTYH):c.1477G>A (p.Val493Ile) rs587782228
NM_001128425.1(MUTYH):c.1491T>G (p.Tyr497Ter) rs1064793198
NM_001128425.1(MUTYH):c.1493A>G (p.Gln498Arg) rs587780085
NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter) rs932830392
NM_001128425.1(MUTYH):c.1514G>A (p.Cys505Tyr) rs1064793656
NM_001128425.1(MUTYH):c.1519-11T>G rs1064793775
NM_001128425.1(MUTYH):c.1519-14C>G rs1031501403
NM_001128425.1(MUTYH):c.1530G>A (p.Arg510=) rs747201171
NM_001128425.1(MUTYH):c.1560A>G (p.Lys520=) rs1451314352
NM_001128425.1(MUTYH):c.157+20C>G rs1057524247
NM_001128425.1(MUTYH):c.157+20C>T rs1057524247
NM_001128425.1(MUTYH):c.157+9C>A rs1057522475
NM_001128425.1(MUTYH):c.158-13C>T rs1316542179
NM_001128425.1(MUTYH):c.1588G>T (p.Asp530Tyr) rs147923905
NM_001128425.1(MUTYH):c.1608C>T (p.His536=) rs779326923
NM_001128425.1(MUTYH):c.1615A>G (p.Thr539Ala) rs151196169
NM_001128425.1(MUTYH):c.1617T>C (p.Thr539=) rs756708148
NM_001128425.1(MUTYH):c.1640del (p.Ala547fs) rs587780086
NM_001128425.1(MUTYH):c.196G>A (p.Ala66Thr) rs1064793421
NM_001128425.1(MUTYH):c.217G>A (p.Glu73Lys) rs1064794128
NM_001128425.1(MUTYH):c.244T>C (p.Ser82Pro) rs773198648
NM_001128425.1(MUTYH):c.254A>G (p.His85Arg) rs558707786
NM_001128425.1(MUTYH):c.256C>T (p.Leu86=) rs781163298
NM_001128425.1(MUTYH):c.267C>T (p.Asp89=) rs538419476
NM_001128425.1(MUTYH):c.299T>A (p.Leu100Gln) rs730881831
NM_001128425.1(MUTYH):c.300G>A (p.Leu100=) rs766958451
NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter) rs1553130185
NM_001128425.1(MUTYH):c.336A>G (p.Pro112=) rs1057520980
NM_001128425.1(MUTYH):c.346C>T (p.Arg116Trp) rs373766973
NM_001128425.1(MUTYH):c.347G>A (p.Arg116Gln) rs587782683
NM_001128425.1(MUTYH):c.349-7T>C rs1034878313
NM_001128425.1(MUTYH):c.36+1936G>A rs115736558
NM_001128425.1(MUTYH):c.37-5T>G rs876660715
NM_001128425.1(MUTYH):c.379G>A (p.Ala127Thr) rs746112825
NM_001128425.1(MUTYH):c.389-18C>T rs1553129716
NM_001128425.1(MUTYH):c.389-20T>C rs987662524
NM_001128425.1(MUTYH):c.389-4C>A rs767717597
NM_001128425.1(MUTYH):c.389-6C>T rs376600220
NM_001128425.1(MUTYH):c.390G>A (p.Val130=) rs774780021
NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) rs730881832
NM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter) rs587781295
NM_001128425.1(MUTYH):c.409C>T (p.Leu137=) rs368963039
NM_001128425.1(MUTYH):c.44T>C (p.Met15Thr) rs201163858
NM_001128425.1(MUTYH):c.450C>T (p.Thr150=) rs368383907
NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.462+3G>A rs373939052
NM_001128425.1(MUTYH):c.463-14G>A rs773394286
NM_001128425.1(MUTYH):c.463-1G>A rs1057520660
NM_001128425.1(MUTYH):c.463A>T (p.Lys155Ter) rs876660787
NM_001128425.1(MUTYH):c.465G>A (p.Lys155=) rs878854190
NM_001128425.1(MUTYH):c.474A>T (p.Thr158=) rs780182847
NM_001128425.1(MUTYH):c.475C>A (p.Leu159Met) rs199862273
NM_001128425.1(MUTYH):c.497C>T (p.Ser166Phe) rs587780087
NM_001128425.1(MUTYH):c.505-12T>G rs890418965
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp) rs750592289
NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) rs587780088
NM_001128425.1(MUTYH):c.560A>G (p.Gln187Arg) rs757503642
NM_001128425.1(MUTYH):c.576+4A>C rs1064796369
NM_001128425.1(MUTYH):c.576+6G>C rs762573043
NM_001128425.1(MUTYH):c.578T>C (p.Val193Ala) rs879254293
NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter) rs745921592
NM_001128425.1(MUTYH):c.627G>A (p.Gln209=) rs730881837
NM_001128425.1(MUTYH):c.628C>T (p.Gln210Ter) rs376561094
NM_001128425.1(MUTYH):c.657A>C (p.Thr219=) rs778014929
NM_001128425.1(MUTYH):c.662G>C (p.Gly221Ala) rs1064793779
NM_001128425.1(MUTYH):c.678C>T (p.Ile226=) rs371875647
NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter) rs1064796630
NM_001128425.1(MUTYH):c.690+12G>T rs1057522576
NM_001128425.1(MUTYH):c.690+1G>T rs878854193
NM_001128425.1(MUTYH):c.691-11C>T rs1057522026
NM_001128425.1(MUTYH):c.691-12C>T rs567135624
NM_001128425.1(MUTYH):c.693A>G (p.Ala231=) rs908344724
NM_001128425.1(MUTYH):c.698G>A (p.Gly233Asp) rs147487160
NM_001128425.1(MUTYH):c.713A>C (p.Asn238Thr) rs1057517765
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.719C>T (p.Ala240Val) rs369120013
NM_001128425.1(MUTYH):c.724G>A (p.Val242Met) rs769766446
NM_001128425.1(MUTYH):c.724G>C (p.Val242Leu) rs769766446
NM_001128425.1(MUTYH):c.724G>T (p.Val242Leu) rs769766446
NM_001128425.1(MUTYH):c.736G>A (p.Val246Ile) rs587780749
NM_001128425.1(MUTYH):c.778C>T (p.Gln260Ter) rs773087549
NM_001128425.1(MUTYH):c.788+14G>T rs957110303
NM_001128425.1(MUTYH):c.788+7T>A rs369052315
NM_001128425.1(MUTYH):c.788+9T>C rs143091801
NM_001128425.1(MUTYH):c.812A>G (p.Asp271Gly) rs879254255
NM_001128425.1(MUTYH):c.819C>G (p.Ala273=) rs753807655
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) rs876659676
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.861C>T (p.Ala287=) rs1057522708
NM_001128425.1(MUTYH):c.869G>A (p.Cys290Tyr) rs1064795466
NM_001128425.1(MUTYH):c.879G>A (p.Gln293=) rs1553127655
NM_001128425.1(MUTYH):c.881G>A (p.Arg294His) rs146044717
NM_001128425.1(MUTYH):c.890G>A (p.Cys297Tyr) rs879254257
NM_001128425.1(MUTYH):c.893G>A (p.Ser298Asn) rs757080586
NM_001128425.1(MUTYH):c.918C>G (p.Cys306Trp) rs730881834
NM_001128425.1(MUTYH):c.920G>A (p.Arg307Gln) rs140156029
NM_001128425.1(MUTYH):c.930G>C (p.Gln310His) rs1064793522
NM_001128425.1(MUTYH):c.933+10C>T rs1060504205
NM_001128425.1(MUTYH):c.933+20G>A rs1057524570
NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter) rs587781338
NM_001128425.1(MUTYH):c.951C>G (p.Leu317=) rs11211096
NM_001128425.1(MUTYH):c.954A>G (p.Leu318=) rs1553127406
NM_001128425.1(MUTYH):c.957C>T (p.Ala319=) rs1057521985
NM_001128425.1(MUTYH):c.965G>C (p.Ser322Thr) rs587781810
NM_001128425.1(MUTYH):c.972G>A (p.Ser324=) rs771683103
NM_001128425.1(MUTYH):c.981T>C (p.Pro327=) rs149334084
NM_001128425.1(MUTYH):c.984C>A (p.Asp328Glu) rs587780752
NM_001128425.1(MUTYH):c.987G>C (p.Val329=) rs749048388
NM_001128425.1(MUTYH):c.997+13C>T rs777729507
NM_001128425.1(MUTYH):c.997+15T>C rs1191301381
NM_001128425.1(MUTYH):c.998-18G>A rs750710892
NM_001293192.1(MUTYH):c.-164del rs587781704
NM_001293192.1(MUTYH):c.-97-64del rs746449748
NM_012222.2(MUTYH):c.1004_1005delinsGC (p.Gln335Arg) rs587780083
NM_012222.2(MUTYH):c.1064_1066delinsACA (p.Phe355_Pro356delinsTyrThr) rs1064793199
NM_012222.2(MUTYH):c.1092dup (p.Arg365fs) rs768130289
NM_012222.2(MUTYH):c.1178-32_1190del rs886039606
NM_012222.2(MUTYH):c.1205C>T (p.Pro402Leu) rs529008617
NM_012222.2(MUTYH):c.1205_1215del (p.Pro402fs) rs863224501
NM_012222.2(MUTYH):c.1312del (p.Glu438fs) rs1064795480
NM_012222.2(MUTYH):c.1438dup (p.Thr480fs) rs1553124893
NM_012222.2(MUTYH):c.1440C>T (p.Thr480=) rs150269172
NM_012222.2(MUTYH):c.1535C>T (p.Ser512Phe) rs140118273
NM_012222.2(MUTYH):c.1547_1595del (p.Arg516fs) rs1064794411
NM_012222.2(MUTYH):c.1576C>A (p.Leu526Met) rs3219496
NM_012222.2(MUTYH):c.1591C>T (p.Arg531Trp) rs144616312
NM_012222.2(MUTYH):c.1592G>A (p.Arg531Gln) rs3219497
NM_012222.2(MUTYH):c.456del (p.Lys152fs) rs1553129349
NM_012222.2(MUTYH):c.496-4A>G rs201678305
NM_012222.2(MUTYH):c.633C>T (p.Gly211=) rs1057524506
NM_012222.2(MUTYH):c.682-18_682-17del rs765157527
NM_012222.2(MUTYH):c.707_712delinsCAGCTGCT (p.Val236fs) rs1064793197
NM_012222.2(MUTYH):c.724C>T (p.Arg242Cys) rs200495564
NM_012222.2(MUTYH):c.725G>A (p.Arg242His) rs140342925
NM_012222.2(MUTYH):c.875C>T (p.Pro292Leu) rs374950566

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