ClinVar Miner

List of variants reported as not provided for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) rs139165943 0.00019
NM_002439.5(MSH3):c.2044G>C (p.Val682Leu) rs145657887 0.00012
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln) rs531178000 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) rs376048896 0.00004
NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu) rs2230243 0.00004
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_006231.4(POLE):c.3377C>T (p.Ala1126Val) rs373707446 0.00003
NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn) rs757080586 0.00002
NM_002691.4(POLD1):c.367C>T (p.Pro123Ser) rs761127022 0.00002
NM_000038.6(APC):c.1743+5C>T rs876658386 0.00001
NM_000038.6(APC):c.323G>A (p.Gly108Glu) rs1114167456 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_002439.5(MSH3):c.1078A>G (p.Met360Val) rs1260085751 0.00001
NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys) rs759247521 0.00001
NM_002439.5(MSH3):c.2185C>G (p.His729Asp) rs145353158 0.00001
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) rs1055874267 0.00001
NM_002691.4(POLD1):c.2066G>A (p.Arg689Gln) rs146530638 0.00001
NM_002691.4(POLD1):c.2458G>A (p.Ala820Thr) rs753609023 0.00001
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
GRCh37/hg19 5q22.2(chr5:112073556-112179823)x1
NM_000038.6(APC):c.1210del (p.Ile404fs) rs1064794225
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.3629A>T (p.His1210Leu) rs756346998
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.863C>T (p.Thr288Ile) rs1580511667
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
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.487C>T (p.Arg163Trp) rs761101420
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
NM_002439.5(MSH3):c.1914CTT[1] (p.Phe639del) rs758193305
NM_002439.5(MSH3):c.2499C>G (p.Cys833Trp) rs1744532481
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu) rs1177326558
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) rs774030917
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4924T>C (p.Cys1642Arg) rs1593730686

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