ClinVar Miner

List of variants studied for attenuated familial adenomatous polyposis by OMIM

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
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_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
APC deletion
APC, 5-BP DEL, NT3221
NC_000005.10:g.112837231_112890913del
NC_000005.9:g.112172610_112244011del
NM_000038.5(APC):c.730_731delAG rs387906228
NM_000038.6(APC):c.1059_1060insAAGGATGATAT (p.Pro354fs) rs1554079996
NM_000038.6(APC):c.1069dup (p.Ile357fs) rs387906232
NM_000038.6(APC):c.1100_1101del (p.Ser367fs) rs387906237
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) rs387906238
NM_000038.6(APC):c.1311_1312+1del rs397514030
NM_000038.6(APC):c.1369del (p.Ser457fs) rs387906229
NM_000038.6(APC):c.1458T>G (p.Tyr486Ter) rs2229992
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1500T>G (p.Tyr500Ter) rs387906230
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1885_1886insA (p.Leu629fs) rs387906233
NM_000038.6(APC):c.2093T>A (p.Leu698Ter) rs137854582
NM_000038.6(APC):c.2138C>G (p.Ser713Ter) rs137854570
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) rs387906236
NM_000038.6(APC):c.470G>A (p.Trp157Ter) rs137854576
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) rs587776520
NM_000038.6(APC):c.5942del (p.Asn1981fs) rs397509433
NM_000038.6(APC):c.622C>T (p.Gln208Ter) rs137854583
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.839C>G (p.Ser280Ter) rs137854569
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.1377del (p.Thr460fs) rs146331482
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001127511.3(APC):c.-190G>A rs879253785
NM_001127511.3(APC):c.-192A>T rs879253784
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002439.5(MSH3):c.2760del (p.Tyr921fs) rs751326348
NM_002439.5(MSH3):c.3001-2A>C rs886037878
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu) rs397514633
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909

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