ClinVar Miner

List of variants reported as uncertain significance for Familial adenomatous polyposis 2 by Baylor Genetics

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Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys) rs147480076 0.00016
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu) rs769766446 0.00010
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln) rs140156029 0.00009
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr) rs147923905 0.00008
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp) rs373766973 0.00007
NM_001048174.2(MUTYH):c.1351G>A (p.Glu451Lys) rs376790729 0.00006
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr) rs587782263 0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys) rs587780748 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr) rs587778534 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His) rs587780741 0.00003
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys) rs587781668 0.00003
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) rs369410616 0.00003
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp) rs144616312 0.00003
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln) rs587782683 0.00003
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser) rs771641237 0.00003
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu) rs587778538 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys) rs773370513 0.00002
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001048174.2(MUTYH):c.1512C>A (p.Phe504Leu) rs768671057 0.00002
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp) rs587781645 0.00002
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) rs587782837 0.00002
NM_001048174.2(MUTYH):c.1015C>G (p.Pro339Ala) rs876660262 0.00001
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp) rs587778539 0.00001
NM_001048174.2(MUTYH):c.1151C>T (p.Ser384Leu) rs587781533 0.00001
NM_001048174.2(MUTYH):c.1199C>T (p.Ala400Val) rs1060501326 0.00001
NM_001048174.2(MUTYH):c.128A>G (p.Gln43Arg) rs767237971 0.00001
NM_001048174.2(MUTYH):c.131C>T (p.Pro44Leu) rs759140181 0.00001
NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys) rs767747402 0.00001
NM_001048174.2(MUTYH):c.1397T>C (p.Phe466Ser) rs1394044603 0.00001
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) rs587780085 0.00001
NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His) rs587782794 0.00001
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly) rs876659488 0.00001
NM_001048174.2(MUTYH):c.1471C>T (p.Arg491Trp) rs754364718 0.00001
NM_001048174.2(MUTYH):c.1534G>A (p.Asp512Asn) rs1439243449 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.160T>C (p.Ser54Pro) rs773198648 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln) rs587781444 0.00001
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr) rs201163858 0.00001
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile) rs763273196 0.00001
NM_001048174.2(MUTYH):c.375G>T (p.Met125Ile) rs1060501328 0.00001
NM_001048174.2(MUTYH):c.381G>T (p.Lys127Asn) rs878854190 0.00001
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr) rs201103359 0.00001
NM_001048174.2(MUTYH):c.421-12T>G rs890418965 0.00001
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp) rs773674701 0.00001
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) rs750592289 0.00001
NM_001048174.2(MUTYH):c.478G>A (p.Glu160Lys) rs1428261191 0.00001
NM_001048174.2(MUTYH):c.524G>A (p.Arg175His) rs538383136 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001048174.2(MUTYH):c.601G>A (p.Gly201Ser) rs371102235 0.00001
NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp) rs752114814 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr) rs774237159 0.00001
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val) rs369120013 0.00001
NM_001048174.2(MUTYH):c.656G>A (p.Arg219Gln) rs777335285 0.00001
NM_001048174.2(MUTYH):c.713C>G (p.Ala238Gly) rs750344996 0.00001
NM_001048174.2(MUTYH):c.724G>A (p.Val242Met) rs765046399 0.00001
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val) rs587782764 0.00001
NM_001048174.2(MUTYH):c.766G>C (p.Glu256Gln) rs141280536 0.00001
NM_001048174.2(MUTYH):c.776C>G (p.Ala259Gly) rs1557470940 0.00001
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys) rs199840380 0.00001
NM_001048174.2(MUTYH):c.820G>T (p.Val274Leu) rs760889663 0.00001
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp) rs759822330 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.923C>T (p.Thr308Ile) rs876659790 0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu) rs1060501323 0.00001
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu) rs587781374 0.00001
NM_001128425.2(MUTYH):c.36+4C>G rs774530388 0.00001
NM_001128425.2(MUTYH):c.36+5G>A rs876658588 0.00001
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.1069G>T (p.Ala357Ser) rs876659232
NM_001048174.2(MUTYH):c.1088A>G (p.Gln363Arg) rs984795084
NM_001048174.2(MUTYH):c.1102G>A (p.Gly368Ser) rs1064795219
NM_001048174.2(MUTYH):c.1103G>T (p.Gly368Val) rs36053993
NM_001048174.2(MUTYH):c.1148_1156del (p.Pro383_Glu385del)
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1190A>G (p.Gln397Arg) rs1205029214
NM_001048174.2(MUTYH):c.1193G>A (p.Arg398His) rs748700385
NM_001048174.2(MUTYH):c.1232T>C (p.Leu411Pro) rs587780745
NM_001048174.2(MUTYH):c.1239G>A (p.Glu413=) rs587782564
NM_001048174.2(MUTYH):c.1253_1255del (p.Phe418del) rs747232389
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp) rs786202133
NM_001048174.2(MUTYH):c.1268T>A (p.Leu423Gln)
NM_001048174.2(MUTYH):c.1295T>C (p.Leu432Ser) rs1553125160
NM_001048174.2(MUTYH):c.129G>C (p.Gln43His)
NM_001048174.2(MUTYH):c.1325C>T (p.Pro442Leu) rs786202930
NM_001048174.2(MUTYH):c.1337G>A (p.Arg446His) rs764276907
NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met) rs767747402
NM_001048174.2(MUTYH):c.1349A>G (p.Gln450Arg) rs774607582
NM_001048174.2(MUTYH):c.1357T>C (p.Phe453Leu)
NM_001048174.2(MUTYH):c.1388A>G (p.Lys463Arg) rs1431036902
NM_001048174.2(MUTYH):c.1392+2C>G
NM_001048174.2(MUTYH):c.1403T>C (p.Val468Ala) rs1570346203
NM_001048174.2(MUTYH):c.1434+4A>G rs876658323
NM_001048174.2(MUTYH):c.1435G>C (p.Gly479Arg) rs1644383406
NM_001048174.2(MUTYH):c.1446G>T (p.Arg482Ser)
NM_001048174.2(MUTYH):c.1468A>T (p.Ser490Cys)
NM_001048174.2(MUTYH):c.1481C>T (p.Pro494Leu) rs1553122949
NM_001048174.2(MUTYH):c.148C>G (p.Gln50Glu) rs1645377813
NM_001048174.2(MUTYH):c.1498G>A (p.Val500Ile) rs1570312447
NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His) rs147923905
NM_001048174.2(MUTYH):c.1516del (p.Arg506fs)
NM_001048174.2(MUTYH):c.1517G>C (p.Arg506Pro) rs3219497
NM_001048174.2(MUTYH):c.1538C>A (p.Ala513Glu) rs751053826
NM_001048174.2(MUTYH):c.1546C>T (p.Leu516Phe) rs930407042
NM_001048174.2(MUTYH):c.200C>G (p.Ala67Gly) rs1645363196
NM_001048174.2(MUTYH):c.202T>C (p.Phe68Leu) rs1553130266
NM_001048174.2(MUTYH):c.229G>T (p.Asp77Tyr) rs587780746
NM_001048174.2(MUTYH):c.233A>T (p.Gln78Leu) rs1553130148
NM_001048174.2(MUTYH):c.246C>G (p.Asp82Glu)
NM_001048174.2(MUTYH):c.265G>A (p.Ala89Thr) rs1304163797
NM_001048174.2(MUTYH):c.295G>A (p.Ala99Thr) rs746112825
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys) rs876660615
NM_001048174.2(MUTYH):c.311T>A (p.Val104Asp) rs876660804
NM_001048174.2(MUTYH):c.311T>C (p.Val104Ala)
NM_001048174.2(MUTYH):c.343G>A (p.Ala115Thr) rs1570433288
NM_001048174.2(MUTYH):c.354C>G (p.Ile118Met)
NM_001048174.2(MUTYH):c.368G>T (p.Gly123Val) rs2149164661
NM_001048174.2(MUTYH):c.370T>A (p.Trp124Arg) rs1261588058
NM_001048174.2(MUTYH):c.379-8G>A
NM_001048174.2(MUTYH):c.391C>A (p.Leu131Met) rs199862273
NM_001048174.2(MUTYH):c.428A>G (p.Asn143Ser) rs587781528
NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly) rs747993448
NM_001048174.2(MUTYH):c.473T>G (p.Leu158Arg) rs1309501452
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser) rs764458059
NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly) rs761101420
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro) rs538383136
NM_001048174.2(MUTYH):c.53G>T (p.Ser18Ile) rs786202903
NM_001048174.2(MUTYH):c.544C>G (p.Gln182Glu)
NM_001048174.2(MUTYH):c.554C>G (p.Pro185Arg)
NM_001048174.2(MUTYH):c.569A>G (p.Tyr190Cys) rs1570415740
NM_001048174.2(MUTYH):c.604C>G (p.Gln202Glu) rs1064796630
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.640G>A (p.Val214Met) rs769766446
NM_001048174.2(MUTYH):c.647G>A (p.Cys216Tyr) rs375346290
NM_001048174.2(MUTYH):c.700C>T (p.Leu234Phe)
NM_001048174.2(MUTYH):c.705G>T (p.Trp235Cys)
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser) rs786201772
NM_001048174.2(MUTYH):c.734C>T (p.Ala245Val) rs1553127798
NM_001048174.2(MUTYH):c.740_745dup (p.Gly248_Asp249insAlaGly)
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser) rs587778534
NM_001048174.2(MUTYH):c.755A>C (p.Gln252Pro) rs2149139623
NM_001048174.2(MUTYH):c.77C>A (p.Ala26Asp) rs1060501338
NM_001048174.2(MUTYH):c.780A>G (p.Thr260=) rs1557470829
NM_001048174.2(MUTYH):c.790C>G (p.Pro264Ala) rs587781949
NM_001048174.2(MUTYH):c.791C>A (p.Pro264Gln) rs780500491
NM_001048174.2(MUTYH):c.806G>A (p.Cys269Tyr) rs879254257
NM_001048174.2(MUTYH):c.810C>G (p.Ser270Arg) rs937766053
NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr) rs786204112
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001048174.2(MUTYH):c.850G>A (p.Val284Met) rs1570396086
NM_001048174.2(MUTYH):c.85_90del (p.Asn29_Ser30del)
NM_001048174.2(MUTYH):c.862C>G (p.Gln288Glu) rs1423565685
NM_001048174.2(MUTYH):c.913+84G>T
NM_001048174.2(MUTYH):c.92A>G (p.Gln31Arg) rs1557491929
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_001048174.2(MUTYH):c.956A>G (p.Glu319Gly)
NM_001048174.2(MUTYH):c.964G>A (p.Asp322Asn)
NM_001048174.2(MUTYH):c.966C>A (p.Asp322Glu) rs772199096
NM_001128425.2(MUTYH):c.-2C>G rs781609463
NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe) rs587782404
NM_001128425.2(MUTYH):c.13G>A (p.Val5Ile) rs786201933
NM_001128425.2(MUTYH):c.187G>A (p.Gly63Arg) rs541110664
NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr) rs1064793421
NM_001128425.2(MUTYH):c.20G>T (p.Arg7Leu) rs1114167687
NM_001128425.2(MUTYH):c.29G>C (p.Arg10Pro) rs755928199
NM_001128425.2(MUTYH):c.36+4dup rs1557517901
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr) rs375349172

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