ClinVar Miner

List of variants reported as likely benign for attenuated familial adenomatous polyposis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_002691.4(POLD1):c.1785C>T (p.Asp595=) rs769563176 0.00011
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_002691.4(POLD1):c.1681C>A (p.Arg561=) rs368738479 0.00001
NM_002691.4(POLD1):c.933C>T (p.Arg311=) rs749278926 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_000038.6(APC):c.422+10C>G rs899376835
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_002439.5(MSH3):c.1454-5del rs780632399
NM_002528.7(NTHL1):c.115+9G>A rs1393884097
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_006231.4(POLE):c.2706+11G>C rs1555226410
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971

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