ClinVar Miner

List of variants reported as likely pathogenic for MYH-associated polyposis

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Total variants: 85
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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.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.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.1143_1144dup (p.Glu382fs) rs587780078
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.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.241C>G (p.Arg81Gly)
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
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.473T>G (p.Leu158Arg)
NM_001048174.2(MUTYH):c.493-1G>A
NM_001048174.2(MUTYH):c.607-2A>T
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.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_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.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.1501C>T (p.Gln501Ter) rs932830392
NM_001128425.1(MUTYH):c.158-2A>G rs587782066
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.37-2A>G rs1383826978
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.463-1G>A rs1057520660
NM_001128425.1(MUTYH):c.463-1G>C rs1057520660
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.577-2A>G rs1553128663
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.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.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.1178-32_1190del rs886039606
NM_012222.2(MUTYH):c.1258_1260delinsC (p.Glu420fs) rs1553125766
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.499del (p.Glu166_Val167insTer) rs1553129062
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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