ClinVar Miner

List of variants studied for attenuated familial adenomatous polyposis by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_002439.5(MSH3):c.2480A>G (p.His827Arg) rs138339194 0.00191
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) rs115198722 0.00112
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_002439.5(MSH3):c.1394A>G (p.Tyr465Cys) rs35009542 0.00032
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_002439.5(MSH3):c.287C>T (p.Pro96Leu) rs373436584 0.00028
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_006231.4(POLE):c.3922C>T (p.Arg1308Trp) rs763854815 0.00017
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_000038.6(APC):c.7109G>T (p.Gly2370Val) rs140079759 0.00014
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly) rs746782115 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345 0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00010
NM_002439.5(MSH3):c.316C>G (p.Gln106Glu) rs149350323 0.00010
NM_002528.7(NTHL1):c.358C>G (p.Arg120Gly) rs370228590 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370 0.00009
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_002528.7(NTHL1):c.746A>G (p.Lys249Arg) rs373067940 0.00009
NM_006231.4(POLE):c.4055G>C (p.Gly1352Ala) rs147088333 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln) rs372190244 0.00008
NM_006231.4(POLE):c.1282G>A (p.Ala428Thr) rs150032060 0.00008
NM_000038.6(APC):c.1408+3A>G rs534358523 0.00007
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_002439.5(MSH3):c.2695A>G (p.Met899Val) rs756956247 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met) rs531705054 0.00007
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_002691.4(POLD1):c.2717+15G>A rs372493810 0.00006
NM_006231.4(POLE):c.2039G>A (p.Arg680His) rs763522976 0.00006
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln) rs139557851 0.00005
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830 0.00004
NM_000038.6(APC):c.2356C>T (p.Arg786Cys) rs1165139414 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.4714A>T (p.Ile1572Phe) rs750107668 0.00004
NM_000038.6(APC):c.669A>C (p.Gln223His) rs769482880 0.00004
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln) rs531178000 0.00004
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) rs375586273 0.00004
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile) rs138443282 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_000038.6(APC):c.2090C>T (p.Ala697Val) rs761733547 0.00003
NM_000038.6(APC):c.296G>A (p.Arg99Gln) rs199842850 0.00003
NM_000038.6(APC):c.3299C>T (p.Ser1100Phe) rs863224541 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile) rs755345693 0.00003
NM_000038.6(APC):c.8234C>T (p.Pro2745Leu) rs759421641 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys) rs587781668 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_002439.5(MSH3):c.1721G>A (p.Arg574Gln) rs776668872 0.00003
NM_002439.5(MSH3):c.2006G>A (p.Arg669Gln) rs372048303 0.00003
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) rs200007034 0.00003
NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu) rs755619109 0.00003
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.3740C>T (p.Pro1247Leu) rs572986717 0.00003
NM_006231.4(POLE):c.4799T>C (p.Ile1600Thr) rs945434123 0.00003
NM_006231.4(POLE):c.6408C>T (p.Gly2136=) rs1057524549 0.00003
NM_000038.6(APC):c.2240C>T (p.Ser747Leu) rs773020689 0.00002
NM_000038.6(APC):c.2764C>T (p.Leu922Phe) rs150543576 0.00002
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) rs377308875 0.00002
NM_000038.6(APC):c.7646G>A (p.Arg2549His) rs199558585 0.00002
NM_006231.4(POLE):c.1993C>T (p.Arg665Trp) rs367902268 0.00002
NM_006231.4(POLE):c.2888G>A (p.Gly963Asp) rs777454763 0.00002
NM_006231.4(POLE):c.350C>T (p.Ser117Leu) rs372057971 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_000038.6(APC):c.1182G>T (p.Gln394His) rs776197565 0.00001
NM_000038.6(APC):c.1610G>A (p.Ser537Asn) rs1001526630 0.00001
NM_000038.6(APC):c.1829A>G (p.Asp610Gly) rs756090401 0.00001
NM_000038.6(APC):c.2993G>T (p.Gly998Val) rs759579036 0.00001
NM_000038.6(APC):c.319T>G (p.Ser107Ala) rs1485866385 0.00001
NM_000038.6(APC):c.4213G>A (p.Val1405Ile) rs761966904 0.00001
NM_000038.6(APC):c.4898C>T (p.Thr1633Ile) rs765215625 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5779C>A (p.Leu1927Ile) rs730881253 0.00001
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser) rs749507584 0.00001
NM_001048174.2(MUTYH):c.683C>T (p.Thr228Ile) rs766173546 0.00001
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val) rs587782764 0.00001
NM_002439.5(MSH3):c.1261C>G (p.Leu421Val) rs750697976 0.00001
NM_002439.5(MSH3):c.1366G>A (p.Glu456Lys) rs963234468 0.00001
NM_002439.5(MSH3):c.1778G>A (p.Arg593Gln) rs764832633 0.00001
NM_002439.5(MSH3):c.3341A>G (p.His1114Arg) rs1158289237 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2773G>A (p.Val925Met) rs746950229 0.00001
NM_002691.4(POLD1):c.2794G>C (p.Gly932Arg) rs761355038 0.00001
NM_002691.4(POLD1):c.2933G>A (p.Arg978His) rs371628260 0.00001
NM_002691.4(POLD1):c.745G>A (p.Asp249Asn) rs1007807839 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00001
NM_006231.4(POLE):c.4336G>C (p.Val1446Leu) rs878854869 0.00001
NM_006231.4(POLE):c.4374G>A (p.Trp1458Ter) rs747449574 0.00001
NM_006231.4(POLE):c.4609C>T (p.Leu1537Phe) rs1418237375 0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg) rs577952179 0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127 0.00001
NM_006231.4(POLE):c.5152A>G (p.Ser1718Gly) rs374381852 0.00001
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val) rs1064794641 0.00001
NM_006231.4(POLE):c.577A>G (p.Ser193Gly) rs760588718 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_000038.6(APC):c.1141G>T (p.Ala381Ser) rs1363425080
NM_000038.6(APC):c.1601A>G (p.Lys534Arg) rs2149813808
NM_000038.6(APC):c.2503T>C (p.Ser835Pro) rs748302469
NM_000038.6(APC):c.2575G>C (p.Gly859Arg) rs919202692
NM_000038.6(APC):c.2651C>T (p.Ala884Val) rs750217875
NM_000038.6(APC):c.2834_2835delinsTT (p.Arg945Ile) rs786204162
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3485A>G (p.Tyr1162Cys) rs1289027772
NM_000038.6(APC):c.386A>G (p.Glu129Gly) rs759662717
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del) rs587782002
NM_000038.6(APC):c.6627_6629del (p.Ser2210del) rs2149969256
NM_000038.6(APC):c.682A>G (p.Ile228Val) rs1554074757
NM_000038.6(APC):c.7119G>A (p.Met2373Ile)
NM_000038.6(APC):c.7513C>G (p.Arg2505Gly) rs79630786
NM_000038.6(APC):c.7657A>C (p.Lys2553Gln) rs772318413
NM_000038.6(APC):c.7870A>G (p.Asn2624Asp) rs550242704
NM_000038.6(APC):c.7951G>C (p.Val2651Leu) rs1561619590
NM_001048174.2(MUTYH):c.1058G>C (p.Gly353Ala)
NM_001048174.2(MUTYH):c.1489G>A (p.Gly497Ser) rs2149088733
NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp)
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_002439.5(MSH3):c.1070A>T (p.Asp357Val)
NM_002439.5(MSH3):c.115T>A (p.Ser39Thr) rs1580538013
NM_002439.5(MSH3):c.1426T>C (p.Tyr476His) rs758556156
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter) rs1379605717
NM_002439.5(MSH3):c.2014A>G (p.Ile672Val) rs1744152742
NM_002439.5(MSH3):c.2218C>T (p.Pro740Ser) rs931950562
NM_002439.5(MSH3):c.2686G>A (p.Gly896Arg) rs777054839
NM_002439.5(MSH3):c.2735T>G (p.Ile912Ser) rs1580066484
NM_002439.5(MSH3):c.398C>G (p.Ser133Cys)
NM_002439.5(MSH3):c.97A>G (p.Ser33Gly) rs772142059
NM_002528.7(NTHL1):c.105G>C (p.Glu35Asp) rs1596227700
NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala) rs1397863507
NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr) rs149277519
NM_002528.7(NTHL1):c.673G>A (p.Val225Met) rs766473490
NM_002691.4(POLD1):c.1109G>A (p.Ser370Asn) rs868850526
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2429C>A (p.Ala810Glu) rs765981178
NM_002691.4(POLD1):c.2563C>G (p.Arg855Gly) rs768048535
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) rs774030917
NM_006231.4(POLE):c.1267A>G (p.Asn423Asp)
NM_006231.4(POLE):c.1553A>G (p.Asn518Ser) rs553123678
NM_006231.4(POLE):c.2026A>G (p.Met676Val) rs1447713785
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.4(POLE):c.2114G>C (p.Arg705Pro) rs773738016
NM_006231.4(POLE):c.2176T>G (p.Tyr726Asp)
NM_006231.4(POLE):c.2687T>C (p.Met896Thr) rs1385034253
NM_006231.4(POLE):c.3494A>C (p.Asp1165Ala)
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.5151del (p.Asn1717fs) rs1565936691
NM_006231.4(POLE):c.6200C>T (p.Thr2067Ile)
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.950T>C (p.Ile317Thr) rs1060500783

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