ClinVar Miner

List of variants in gene APC reported as likely benign by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331 0.00096
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
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_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660 0.00038
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000038.6(APC):c.564A>G (p.Gln188=) rs377493489 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000038.6(APC):c.2640C>T (p.Ile880=) rs200184105 0.00014
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 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.4669A>G (p.Ile1557Val) rs763578917 0.00010
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334 0.00009
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979 0.00008
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.3624C>T (p.Thr1208=) rs730882125 0.00007
NM_000038.6(APC):c.4533C>T (p.Leu1511=) rs150089434 0.00007
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886 0.00006
NM_000038.6(APC):c.2148A>G (p.Lys716=) rs764733890 0.00006
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874 0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000038.6(APC):c.4146C>G (p.Leu1382=) rs876658384 0.00005
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188 0.00005
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322 0.00004
NM_000038.6(APC):c.4416A>T (p.Val1472=) rs773352404 0.00004
NM_000038.6(APC):c.6135C>T (p.Ser2045=) rs187297940 0.00004
NM_000038.6(APC):c.8042C>T (p.Pro2681Leu) rs182456139 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000038.6(APC):c.1557A>G (p.Leu519=) rs765537673 0.00003
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026 0.00003
NM_000038.6(APC):c.2754G>A (p.Glu918=) rs767066195 0.00003
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500 0.00003
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.6945A>G (p.Gln2315=) rs786201348 0.00003
NM_000038.6(APC):c.7209G>A (p.Gln2403=) rs769603145 0.00003
NM_000038.6(APC):c.756C>T (p.Thr252=) rs771535363 0.00003
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604 0.00003
NM_000038.6(APC):c.1023A>G (p.Gln341=) rs774764623 0.00002
NM_000038.6(APC):c.2481T>C (p.Asn827=) rs749477816 0.00002
NM_000038.6(APC):c.288T>C (p.Tyr96=) rs376213437 0.00002
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511 0.00002
NM_000038.6(APC):c.5424C>T (p.Asn1808=) rs747721259 0.00002
NM_000038.6(APC):c.7443T>A (p.Thr2481=) rs147757080 0.00002
NM_000038.6(APC):c.8199A>G (p.Gln2733=) rs372365378 0.00002
NM_000038.6(APC):c.8382C>T (p.Ser2794=) rs762190393 0.00002
NM_000038.6(APC):c.1050T>G (p.Ser350=) rs760345157 0.00001
NM_000038.6(APC):c.117T>C (p.Thr39=) rs751827696 0.00001
NM_000038.6(APC):c.1276G>T (p.Ala426Ser) rs200598389 0.00001
NM_000038.6(APC):c.1863T>C (p.Thr621=) rs72541808 0.00001
NM_000038.6(APC):c.1958+5A>G rs762899641 0.00001
NM_000038.6(APC):c.221-11A>G rs531060253 0.00001
NM_000038.6(APC):c.228C>T (p.Asn76=) rs766325173 0.00001
NM_000038.6(APC):c.3258C>T (p.His1086=) rs778031876 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.3512G>A (p.Arg1171His) rs372481703 0.00001
NM_000038.6(APC):c.4005C>T (p.Ser1335=) rs751729992 0.00001
NM_000038.6(APC):c.4344C>T (p.Thr1448=) rs864622562 0.00001
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958 0.00001
NM_000038.6(APC):c.5529T>A (p.Pro1843=) rs1060504894 0.00001
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690 0.00001
NM_000038.6(APC):c.6090T>C (p.Leu2030=) rs786203943 0.00001
NM_000038.6(APC):c.6168C>G (p.Leu2056=) rs878853461 0.00001
NM_000038.6(APC):c.6684G>A (p.Arg2228=) rs752314977 0.00001
NM_000038.6(APC):c.672C>T (p.Ile224=) rs367816013 0.00001
NM_000038.6(APC):c.6828A>G (p.Pro2276=) rs758388956 0.00001
NM_000038.6(APC):c.7032A>G (p.Gln2344=) rs753728632 0.00001
NM_000038.6(APC):c.7098T>C (p.Tyr2366=) rs561394771 0.00001
NM_000038.6(APC):c.7107A>G (p.Pro2369=) rs778471612 0.00001
NM_000038.6(APC):c.7125A>G (p.Gln2375=) rs587780603 0.00001
NM_000038.6(APC):c.759C>G (p.Gly253=) rs746850663 0.00001
NM_000038.6(APC):c.7645C>T (p.Arg2549Cys) rs199539353 0.00001
NM_000038.6(APC):c.7977G>A (p.Val2659=) rs1392424178 0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128 0.00001
NM_000038.6(APC):c.8499C>G (p.Arg2833=) rs757921527 0.00001
NM_000038.6(APC):c.1281T>C (p.His427=) rs770616197
NM_000038.6(APC):c.1491A>G (p.Leu497=) rs201992951
NM_000038.6(APC):c.1500T>C (p.Tyr500=) rs387906230
NM_000038.6(APC):c.2094A>G (p.Leu698=) rs1426881729
NM_000038.6(APC):c.2277C>G (p.Ala759=) rs762441650
NM_000038.6(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.6(APC):c.2730T>C (p.Thr910=) rs2149876172
NM_000038.6(APC):c.2991T>C (p.Tyr997=) rs864622629
NM_000038.6(APC):c.3150A>G (p.Ala1050=) rs1554084742
NM_000038.6(APC):c.3783T>G (p.Thr1261=) rs1765520410
NM_000038.6(APC):c.4065T>C (p.Ser1355=) rs1580643558
NM_000038.6(APC):c.4200G>A (p.Ser1400=) rs367782881
NM_000038.6(APC):c.423-5_423-4del rs730881230
NM_000038.6(APC):c.4512C>G (p.Ser1504=) rs999881274
NM_000038.6(APC):c.4752A>C (p.Pro1584=) rs1554086150
NM_000038.6(APC):c.4758G>A (p.Lys1586=) rs1060504890
NM_000038.6(APC):c.4764A>T (p.Ser1588=) rs1554086165
NM_000038.6(APC):c.4827A>G (p.Pro1609=) rs1398360614
NM_000038.6(APC):c.4932T>G (p.Val1644=) rs1554086321
NM_000038.6(APC):c.5043A>G (p.Ser1681=) rs755065310
NM_000038.6(APC):c.5137T>C (p.Leu1713=) rs1554086476
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5268T>A (p.Ser1756=) rs866006
NM_000038.6(APC):c.5940C>T (p.Asn1980=) rs147598747
NM_000038.6(APC):c.618C>A (p.Thr206=) rs1554072631
NM_000038.6(APC):c.6300T>C (p.Asp2100=) rs2149961786
NM_000038.6(APC):c.6474C>A (p.Pro2158=) rs772027192
NM_000038.6(APC):c.6900T>C (p.Ser2300=) rs202012533
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.6921G>C (p.Ser2307=) rs2229993
NM_000038.6(APC):c.6936T>C (p.Pro2312=) rs1580676516
NM_000038.6(APC):c.7089A>G (p.Lys2363=) rs864622761
NM_000038.6(APC):c.7260T>C (p.Ser2420=) rs755501155
NM_000038.6(APC):c.7269A>G (p.Lys2423=) rs786203620
NM_000038.6(APC):c.7425T>C (p.Thr2475=) rs1554088347
NM_000038.6(APC):c.7995C>T (p.Pro2665=) rs1554088819
NM_000038.6(APC):c.8025C>T (p.Pro2675=) rs1554088840
NM_000038.6(APC):c.8172C>G (p.Ser2724=) rs2150000409
NM_000038.6(APC):c.8196C>T (p.Asp2732=) rs1554088957
NM_000038.6(APC):c.8400T>G (p.Ala2800=) rs1554089109
NM_000038.6(APC):c.934-368A>T rs952620213

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