ClinVar Miner

List of variants reported as uncertain significance for Familial adenomatous polyposis 1 by Mendelics

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ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539 0.00039
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu) rs376494248 0.00021
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000038.6(APC):c.-43A>C rs879254014 0.00011
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.7471A>G (p.Met2491Val) rs375674083 0.00008
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886 0.00006
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu) rs200166878 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7577A>G (p.His2526Arg) rs750012595 0.00006
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874 0.00006
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) rs587781546 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.2948T>C (p.Ile983Thr) rs113674464 0.00004
NM_000038.6(APC):c.7099A>G (p.Thr2367Ala) rs772778630 0.00004
NM_000038.6(APC):c.1966C>G (p.Leu656Val) rs577466163 0.00003
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly) rs375408871 0.00003
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604 0.00003
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.3437G>A (p.Arg1146His) rs763486328 0.00002
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg) rs745825088 0.00002
NM_000038.6(APC):c.4999A>G (p.Asn1667Asp) rs775241441 0.00002
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075 0.00002
NM_000038.6(APC):c.6499A>G (p.Ile2167Val) rs757567894 0.00002
NM_000038.6(APC):c.689G>A (p.Arg230His) rs587780545 0.00002
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422 0.00002
NM_000038.6(APC):c.1243G>A (p.Ala415Thr) rs756336949 0.00001
NM_000038.6(APC):c.1441G>A (p.Val481Met) rs587780542 0.00001
NM_000038.6(APC):c.1564A>G (p.Met522Val) rs587781692 0.00001
NM_000038.6(APC):c.1610G>A (p.Ser537Asn) rs1001526630 0.00001
NM_000038.6(APC):c.1925T>C (p.Val642Ala) rs759528091 0.00001
NM_000038.6(APC):c.2414G>A (p.Arg805Gln) rs200593940 0.00001
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.3295G>A (p.Val1099Ile) rs730881245 0.00001
NM_000038.6(APC):c.4213G>A (p.Val1405Ile) rs761966904 0.00001
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) rs587780597 0.00001
NM_000038.6(APC):c.4414G>A (p.Val1472Ile) rs878853445 0.00001
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn) rs730881251 0.00001
NM_000038.6(APC):c.460G>A (p.Glu154Lys) rs786202822 0.00001
NM_000038.6(APC):c.4833G>C (p.Gln1611His) rs762030106 0.00001
NM_000038.6(APC):c.5068A>G (p.Ile1690Val) rs201142277 0.00001
NM_000038.6(APC):c.5108G>C (p.Gly1703Ala) rs587778042 0.00001
NM_000038.6(APC):c.5138T>C (p.Leu1713Ser) rs587779797 0.00001
NM_000038.6(APC):c.5365G>C (p.Val1789Leu) rs1554086666 0.00001
NM_000038.6(APC):c.5816A>T (p.Asp1939Val) rs754783550 0.00001
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr) rs770406711 0.00001
NM_000038.6(APC):c.6710G>A (p.Arg2237Gln) rs1299714632 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549 0.00001
NM_000038.6(APC):c.737C>T (p.Ser246Phe) rs754667638 0.00001
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp) rs587782127 0.00001
NM_000038.6(APC):c.7720C>A (p.Leu2574Ile) rs876659753 0.00001
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584 0.00001
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr) rs878853471 0.00001
NM_000038.6(APC):c.7916A>C (p.Glu2639Ala) rs778376399 0.00001
NM_000038.6(APC):c.8134C>T (p.Pro2712Ser) rs76933416 0.00001
NM_000038.6(APC):c.8161C>T (p.Arg2721Cys) rs587782312 0.00001
NM_000038.6(APC):c.8275C>T (p.Arg2759Cys) rs755366812 0.00001
NM_000038.6(APC):c.8524T>G (p.Ser2842Ala) rs587780610 0.00001
NM_000038.6(APC):c.1176C>G (p.His392Gln) rs1580530148
NM_000038.6(APC):c.1266G>C (p.Glu422Asp) rs1004279154
NM_000038.6(APC):c.1773C>G (p.Ala591=) rs1580603391
NM_000038.6(APC):c.1864T>C (p.Tyr622His) rs1561568794
NM_000038.6(APC):c.2254C>G (p.Leu752Val) rs1561575778
NM_000038.6(APC):c.2281G>C (p.Glu761Gln) rs1580620124
NM_000038.6(APC):c.2357G>A (p.Arg786His) rs1554084088
NM_000038.6(APC):c.2360G>A (p.Ser787Asn) rs910898245
NM_000038.6(APC):c.2623A>G (p.Lys875Glu) rs1580624931
NM_000038.6(APC):c.2650G>A (p.Ala884Thr) rs863224540
NM_000038.6(APC):c.2776T>A (p.Ser926Thr) rs1580626857
NM_000038.6(APC):c.280C>G (p.Arg94Gly) rs550945533
NM_000038.6(APC):c.2995C>G (p.Gln999Glu) rs75239284
NM_000038.6(APC):c.3029G>A (p.Ser1010Asn) rs864622584
NM_000038.6(APC):c.302G>A (p.Gly101Glu) rs954713888
NM_000038.6(APC):c.3275A>C (p.His1092Pro) rs587779788
NM_000038.6(APC):c.3319G>T (p.Ala1107Ser) rs1060503283
NM_000038.6(APC):c.331A>G (p.Ser111Gly) rs1580328938
NM_000038.6(APC):c.4124A>C (p.His1375Pro) rs750884499
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.424T>A (p.Ser142Thr) rs1311934641
NM_000038.6(APC):c.4325CTC[1] (p.Pro1443del) rs1064793557
NM_000038.6(APC):c.4349G>T (p.Arg1450Leu) rs587782678
NM_000038.6(APC):c.4556A>G (p.Asp1519Gly) rs1245649089
NM_000038.6(APC):c.4583T>C (p.Val1528Ala) rs1561593719
NM_000038.6(APC):c.4805C>A (p.Pro1602His) rs1580652844
NM_000038.6(APC):c.4813G>A (p.Val1605Met) rs1554086219
NM_000038.6(APC):c.4856C>A (p.Pro1619Gln) rs952674488
NM_000038.6(APC):c.4994C>A (p.Pro1665His) rs1176817504
NM_000038.6(APC):c.5020G>A (p.Gly1674Arg) rs899555020
NM_000038.6(APC):c.5038C>G (p.Gln1680Glu) rs754122018
NM_000038.6(APC):c.5092G>A (p.Asp1698Asn) rs745542459
NM_000038.6(APC):c.5357G>C (p.Arg1786Thr) rs944674770
NM_000038.6(APC):c.557G>C (p.Arg186Thr) rs1561485438
NM_000038.6(APC):c.5624C>G (p.Ser1875Cys) rs1460643869
NM_000038.6(APC):c.5741C>T (p.Ala1914Val) rs199904481
NM_000038.6(APC):c.5942A>G (p.Asn1981Ser) rs1233897262
NM_000038.6(APC):c.6326A>G (p.Asn2109Ser) rs774352590
NM_000038.6(APC):c.6460C>A (p.Gln2154Lys) rs1003613894
NM_000038.6(APC):c.6577A>C (p.Lys2193Gln) rs1060503343
NM_000038.6(APC):c.673G>C (p.Glu225Gln) rs768233232
NM_000038.6(APC):c.7519C>T (p.Leu2507Phe) rs1561616229
NM_000038.6(APC):c.7604G>A (p.Ser2535Asn) rs1355563057
NM_000038.6(APC):c.7618C>G (p.Pro2540Ala) rs1554088531
NM_000038.6(APC):c.7639T>G (p.Trp2547Gly) rs1476294154
NM_000038.6(APC):c.7793C>T (p.Thr2598Ile) rs747339588
NM_000038.6(APC):c.7844T>C (p.Ile2615Thr) rs1317953419
NM_000038.6(APC):c.7942G>A (p.Ala2648Thr) rs1195417407
NM_000038.6(APC):c.8023C>T (p.Pro2675Ser) rs1561619997
NM_000038.6(APC):c.8038C>A (p.Pro2680Thr) rs587780553
NM_000038.6(APC):c.8250G>C (p.Glu2750Asp) rs767530768
NM_000038.6(APC):c.8430T>A (p.Asn2810Lys) rs1057522374
NM_000038.6(APC):c.878G>A (p.Ser293Asn) rs1040502776
NM_000038.6(APC):c.899C>T (p.Ala300Val) rs1561535584

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