ClinVar Miner

List of variants in gene MUTYH reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_45800057)_(45800189_?)dup
NC_000001.11:g.(?_45329300)_(45330563_?)del
NM_001048171.1(MUTYH):c.1005G>A (p.Trp335Ter) rs1060501324
NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) rs587778536
NM_001048171.1(MUTYH):c.1435-1G>A rs1057517459
NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe) rs587782228
NM_001048171.1(MUTYH):c.206C>G (p.Ser69Ter) rs370124822
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001048171.1(MUTYH):c.310G>T (p.Glu104Ter) rs1553129892
NM_001048171.1(MUTYH):c.425G>A (p.Trp142Ter) rs762307622
NM_001048171.1(MUTYH):c.502C>T (p.Arg168Cys) rs747993448
NM_001048171.1(MUTYH):c.517C>T (p.Gln173Ter) rs1553128813
NM_001048171.1(MUTYH):c.534G>A (p.Lys178=) rs876660092
NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) rs587782885
NM_001048171.1(MUTYH):c.85C>T (p.Gln29Ter) rs768386527
NM_001048174.2(MUTYH):c.1102+2T>C
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.1149del (p.Ser384fs)
NM_001048174.2(MUTYH):c.115+1G>A
NM_001048174.2(MUTYH):c.1239+1G>T
NM_001048174.2(MUTYH):c.1240-1G>A
NM_001048174.2(MUTYH):c.1240-2A>C
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs) rs876659414
NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter)
NM_001048174.2(MUTYH):c.1446del (p.Arg482fs)
NM_001048174.2(MUTYH):c.1457_1487del (p.Ser486fs)
NM_001048174.2(MUTYH):c.1460_1463dup (p.Cys489fs) rs1570314279
NM_001048174.2(MUTYH):c.241C>G (p.Arg81Gly)
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
NM_001048174.2(MUTYH):c.378+1G>T
NM_001048174.2(MUTYH):c.420+1_493-25del
NM_001048174.2(MUTYH):c.421-2A>C rs786203161
NM_001048174.2(MUTYH):c.421-2A>G rs786203161
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly)
NM_001048174.2(MUTYH):c.473T>G (p.Leu158Arg)
NM_001048174.2(MUTYH):c.493-1G>A
NM_001048174.2(MUTYH):c.493-5A>G rs758377868
NM_001048174.2(MUTYH):c.606G>C (p.Gln202His) rs199989617
NM_001048174.2(MUTYH):c.607-2A>T
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598
NM_001048174.2(MUTYH):c.622G>A (p.Asp208Asn) rs1570409700
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.704G>C (p.Trp235Ser)
NM_001048174.2(MUTYH):c.705-2A>C
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955
NM_001048174.2(MUTYH):c.849+1G>T
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001048174.2(MUTYH):c.914-1G>T
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001128425.1(MUTYH):c.1078del (p.Arg360fs) rs1057517456
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.1186+1G>A rs587781337
NM_001128425.1(MUTYH):c.1186+1G>T rs587781337
NM_001128425.1(MUTYH):c.1186G>A (p.Gly396Ser) rs1064795219
NM_001128425.1(MUTYH):c.1324-1G>T rs876660837
NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) rs786202133
NM_001128425.1(MUTYH):c.1402_1403del (p.Thr468fs) rs1553125075
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001128425.1(MUTYH):c.1471A>T (p.Lys491Ter) rs876660774
NM_001128425.1(MUTYH):c.1476_1476+6del rs864621967
NM_001128425.1(MUTYH):c.1491T>G (p.Tyr497Ter) rs1064793198
NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter) rs932830392
NM_001128425.1(MUTYH):c.1518+1G>T rs876659420
NM_001128425.1(MUTYH):c.158-2A>G rs587782066
NM_001128425.1(MUTYH):c.1640del (p.Ala547fs) rs587780086
NM_001128425.1(MUTYH):c.254A>G (p.His85Arg) rs558707786
NM_001128425.1(MUTYH):c.326G>C (p.Arg109Pro) rs761763725
NM_001128425.1(MUTYH):c.332T>C (p.Leu111Pro) rs1557485553
NM_001128425.1(MUTYH):c.338G>A (p.Trp113Ter) rs888691362
NM_001128425.1(MUTYH):c.348+1G>A rs1553130042
NM_001128425.1(MUTYH):c.348+1G>T rs1553130042
NM_001128425.1(MUTYH):c.37-2A>G rs1383826978
NM_001128425.1(MUTYH):c.389-1G>A rs372267274
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.401A>T (p.Glu134Val) rs864622450
NM_001128425.1(MUTYH):c.44T>C (p.Met15Thr) rs201163858
NM_001128425.1(MUTYH):c.453_458dup (p.Met153_Gln154insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.462+2T>G rs1553129521
NM_001128425.1(MUTYH):c.463-1G>A rs1057520660
NM_001128425.1(MUTYH):c.463-1G>C rs1057520660
NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu) rs777184451
NM_001128425.1(MUTYH):c.504+19_504+31del rs781222233
NM_001128425.1(MUTYH):c.504+2T>C rs587782730
NM_001128425.1(MUTYH):c.504+2T>G rs587782730
NM_001128425.1(MUTYH):c.526_535del (p.Gly176fs) rs1057517457
NM_001128425.1(MUTYH):c.545G>C (p.Arg182Pro) rs143353451
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.563_576+1del rs766553845
NM_001128425.1(MUTYH):c.577-2A>G rs1553128663
NM_001128425.1(MUTYH):c.643G>A (p.Val215Met) rs776487884
NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter) rs1064796630
NM_001128425.1(MUTYH):c.690+1G>T rs878854193
NM_001128425.1(MUTYH):c.690G>A (p.Gln230=) rs199989617
NM_001128425.1(MUTYH):c.691-1G>A rs1557474906
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.722G>A (p.Arg241Gln) rs1060501346
NM_001128425.1(MUTYH):c.739C>G (p.Arg247Gly) rs587782885
NM_001128425.1(MUTYH):c.778C>T (p.Gln260Ter) rs773087549
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.859del (p.Ala287fs) rs761468459
NM_001128425.1(MUTYH):c.890G>A (p.Cys297Tyr) rs879254257
NM_001128425.1(MUTYH):c.918C>G (p.Cys306Trp) rs730881834
NM_001128425.1(MUTYH):c.933+2T>G rs1060501333
NM_001128425.1(MUTYH):c.933_933+1delAG rs1553127514
NM_001293192.1(MUTYH):c.-97-64del rs746449748
NM_012222.2(MUTYH):c.1091_1092del (p.Pro364fs) rs768130289
NM_012222.2(MUTYH):c.1092dup (p.Arg365fs) rs768130289
NM_012222.2(MUTYH):c.1178-32_1190del rs886039606
NM_012222.2(MUTYH):c.1205_1215del (p.Pro402fs) rs863224501
NM_012222.2(MUTYH):c.1220_1221dup (p.Pro408fs) rs1553125914
NM_012222.2(MUTYH):c.1258_1260delinsC (p.Glu420fs) rs1553125766
NM_012222.2(MUTYH):c.1312del (p.Glu438fs) rs1064795480
NM_012222.2(MUTYH):c.1386dup (p.Val463fs) rs1553125100
NM_012222.2(MUTYH):c.1468-2_1468-1del rs1570346782
NM_012222.2(MUTYH):c.1540_1541dup (p.Ser515fs) rs1553123017
NM_012222.2(MUTYH):c.1543del (p.Ser515fs) rs878854186
NM_012222.2(MUTYH):c.456del (p.Lys152fs) rs1553129349
NM_012222.2(MUTYH):c.499del (p.Glu166_Val167insTer) rs1553129062
NM_012222.2(MUTYH):c.567+1del rs1553128712
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

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.