ClinVar Miner

List of variants in gene APC reported as uncertain significance for APC-Associated Polyposis Disorders

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Gene type:
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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.*2111G>A rs144766994 0.00039
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000038.6(APC):c.*582C>T rs963668956 0.00016
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000038.6(APC):c.*1127C>A rs1035147052 0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 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.*645A>G rs886059807 0.00010
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 0.00009
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000038.6(APC):c.934-14C>T rs778707022 0.00007
NM_000038.6(APC):c.*1834T>G rs886059815 0.00006
NM_000038.6(APC):c.*624A>C rs886059806 0.00006
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) rs587781546 0.00005
NM_000038.6(APC):c.*1818A>G rs193216000 0.00004
NM_000038.6(APC):c.*650T>C rs1429416316 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6019T>C (p.Tyr2007His) rs745811356 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.*1320T>A rs373883680 0.00003
NM_000038.6(APC):c.*574T>C rs886059805 0.00003
NM_000038.6(APC):c.*913T>C rs886059809 0.00003
NM_000038.6(APC):c.1312+12A>G rs372970635 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000038.6(APC):c.*1294A>G rs886059813 0.00002
NM_000038.6(APC):c.*1960C>G rs886059818 0.00002
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578 0.00002
NM_000038.6(APC):c.3341G>A (p.Arg1114Gln) rs753209586 0.00002
NM_000038.6(APC):c.4343C>T (p.Thr1448Ile) rs907886109 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.5424C>T (p.Asn1808=) rs747721259 0.00002
NM_000038.6(APC):c.5524T>A (p.Ser1842Thr) rs754648125 0.00002
NM_000038.6(APC):c.*1609T>C rs767384752 0.00001
NM_000038.6(APC):c.*1840A>G rs886059816 0.00001
NM_000038.6(APC):c.*1986C>T rs1766974503 0.00001
NM_000038.6(APC):c.*275A>G rs1415852656 0.00001
NM_000038.6(APC):c.*404_*405insA rs1554089340 0.00001
NM_000038.6(APC):c.*405C>A rs79379053 0.00001
NM_000038.6(APC):c.1722A>G (p.Glu574=) rs786201277 0.00001
NM_000038.6(APC):c.2555T>G (p.Leu852Trp) rs1405022793 0.00001
NM_000038.6(APC):c.2958T>C (p.Tyr986=) rs746581330 0.00001
NM_000038.6(APC):c.3653C>T (p.Thr1218Met) rs377640390 0.00001
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn) rs778699501 0.00001
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn) rs730881251 0.00001
NM_000038.6(APC):c.5194A>G (p.Met1732Val) rs752065261 0.00001
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys) rs876658835 0.00001
NM_000038.6(APC):c.5399A>G (p.Asn1800Ser) rs865782682 0.00001
NM_000038.6(APC):c.5658A>G (p.Glu1886=) rs1417046511 0.00001
NM_000038.6(APC):c.5712A>G (p.Gln1904=) rs755851369 0.00001
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870 0.00001
NM_000038.6(APC):c.6492C>T (p.Gly2164=) rs765332758 0.00001
NM_000038.6(APC):c.6556A>C (p.Lys2186Gln) rs886059797 0.00001
NM_000038.6(APC):c.6624A>G (p.Glu2208=) rs886059798 0.00001
NM_000038.6(APC):c.6741T>C (p.Ser2247=) rs878853464 0.00001
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn) rs919611781 0.00001
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp) rs587782127 0.00001
NM_000038.6(APC):c.7903A>G (p.Thr2635Ala) rs886059799 0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128 0.00001
NM_000038.6(APC):c.8212A>G (p.Ile2738Val) rs876658839 0.00001
NM_000038.6(APC):c.8298C>T (p.Ser2766=) rs876658523 0.00001
NM_000038.6(APC):c.*1132C>A rs886059811
NM_000038.6(APC):c.*1233TAT[1] rs886059812
NM_000038.6(APC):c.*1555C>T rs886059814
NM_000038.6(APC):c.*1609T>A rs767384752
NM_000038.6(APC):c.*1937G>T rs886059817
NM_000038.6(APC):c.*1970T>G rs886059819
NM_000038.6(APC):c.*2087C>A rs886059820
NM_000038.6(APC):c.*210_*213del rs763673039
NM_000038.6(APC):c.*505C>A rs886059803
NM_000038.6(APC):c.*551T>C rs886059804
NM_000038.6(APC):c.*714G>T rs886059808
NM_000038.6(APC):c.1398G>A (p.Met466Ile) rs878853417
NM_000038.6(APC):c.1562C>G (p.Ser521Cys) rs1554081882
NM_000038.6(APC):c.2223T>C (p.Asn741=) rs1554084025
NM_000038.6(APC):c.2258A>G (p.His753Arg) rs1580619903
NM_000038.6(APC):c.2547T>C (p.Asp849=) rs766086010
NM_000038.6(APC):c.2654C>T (p.Ala885Val) rs1765236541
NM_000038.6(APC):c.2658G>T (p.Gln886His) rs587780593
NM_000038.6(APC):c.3210T>C (p.Asn1070=) rs886059794
NM_000038.6(APC):c.336T>A (p.Pro112=) rs886059793
NM_000038.6(APC):c.3901A>T (p.Thr1301Ser) rs587780596
NM_000038.6(APC):c.4049A>C (p.Lys1350Thr) rs768397604
NM_000038.6(APC):c.4201A>G (p.Ile1401Val) rs1554085612
NM_000038.6(APC):c.422G>A (p.Arg141Lys) rs1359881085
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.5050T>C (p.Phe1684Leu) rs886059795
NM_000038.6(APC):c.5078A>G (p.Glu1693Gly) rs533667536
NM_000038.6(APC):c.5894A>G (p.His1965Arg) rs773776516
NM_000038.6(APC):c.6316G>C (p.Glu2106Gln) rs886059796
NM_000038.6(APC):c.672C>A (p.Ile224=) rs367816013
NM_000038.6(APC):c.6814A>G (p.Arg2272Gly) rs1561610453
NM_000038.6(APC):c.6989C>T (p.Ser2330Phe) rs1554087891
NM_000038.6(APC):c.72A>T (p.Arg24=) rs1754789814
NM_000038.6(APC):c.772G>C (p.Glu258Gln) rs774604680
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.7957A>G (p.Lys2653Glu) rs1554088788
NM_000038.6(APC):c.8033A>G (p.Asn2678Ser) rs886059800
NM_000038.6(APC):c.8425G>A (p.Val2809Met) rs886059801
NM_000038.6(APC):c.8454C>T (p.Ser2818=) rs1766752417

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