ClinVar Miner

List of variants in gene APC reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001127511.3(APC):c.-152C>T rs138386816 0.00719
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000038.6(APC):c.*248A>G rs186777258 0.00487
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000038.5(APC):c.-30467A>G rs190326008 0.00064
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
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_001127511.3(APC):c.-166C>T rs904001781 0.00043
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
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.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
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.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000038.6(APC):c.*1497C>T rs138754620 0.00013
NM_001127511.3(APC):c.-109C>G rs761634030 0.00013
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000038.6(APC):c.4669A>G (p.Ile1557Val) rs763578917 0.00010
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334 0.00009
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 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.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.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) rs587781546 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.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244 0.00004
NM_000038.6(APC):c.6135C>T (p.Ser2045=) rs187297940 0.00004
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) rs375586273 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026 0.00003
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.2240C>T (p.Ser747Leu) rs773020689 0.00002
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511 0.00002
NM_000038.6(APC):c.5619C>T (p.Asp1873=) rs755764542 0.00002
NM_000038.6(APC):c.5752A>G (p.Ile1918Val) rs776966222 0.00002
NM_000038.6(APC):c.6276A>G (p.Leu2092=) rs548566231 0.00002
NM_000038.6(APC):c.6670A>G (p.Ile2224Val) rs374597207 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000038.6(APC):c.1089T>C (p.Asn363=) rs754925114 0.00001
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.2472A>T (p.Pro824=) rs746965994 0.00001
NM_000038.6(APC):c.2568C>T (p.Arg856=) rs751433216 0.00001
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.2768G>C (p.Arg923Thr) rs1057519194 0.00001
NM_000038.6(APC):c.2958T>C (p.Tyr986=) rs746581330 0.00001
NM_000038.6(APC):c.2985C>T (p.Cys995=) rs1339472818 0.00001
NM_000038.6(APC):c.365G>T (p.Gly122Val) rs755660899 0.00001
NM_000038.6(APC):c.4074G>A (p.Ala1358=) rs149782464 0.00001
NM_000038.6(APC):c.4143A>C (p.Pro1381=) rs778565823 0.00001
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958 0.00001
NM_000038.6(APC):c.5302A>G (p.Lys1768Glu) rs199630012 0.00001
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690 0.00001
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) rs786204043 0.00001
NM_000038.6(APC):c.6621A>G (p.Ser2207=) rs1057521923 0.00001
NM_000038.6(APC):c.688C>T (p.Arg230Cys) rs587779805 0.00001
NM_000038.6(APC):c.6974G>A (p.Gly2325Asp) rs1554087886 0.00001
NM_000038.6(APC):c.735A>G (p.Ser245=) rs876659397 0.00001
NM_000038.6(APC):c.7977G>A (p.Val2659=) rs1392424178 0.00001
NM_000038.6(APC):c.8008A>C (p.Arg2670=) rs756875223 0.00001
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) rs757901425 0.00001
NM_000038.6(APC):c.8399C>T (p.Ala2800Val) rs141024271 0.00001
NC_000005.10:g.112696987C>T
NM_000038.6(APC):c.*210_*213del rs763673039
NM_000038.6(APC):c.*405dup
NM_000038.6(APC):c.*414del rs397817775
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) rs876658802
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1408+8A>G rs1057523135
NM_000038.6(APC):c.1491A>G (p.Leu497=) rs201992951
NM_000038.6(APC):c.1688T>C (p.Leu563Ser) rs1580574619
NM_000038.6(APC):c.1744-687_1744-686del rs35769203
NM_000038.6(APC):c.1813G>A (p.Asp605Asn) rs1060503278
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) rs730881240
NM_000038.6(APC):c.2262T>C (p.Val754=) rs148987776
NM_000038.6(APC):c.233_236del (p.Asp78fs) rs1064793020
NM_000038.6(APC):c.2819C>T (p.Ser940Leu) rs544709767
NM_000038.6(APC):c.2834_2835delinsTT (p.Arg945Ile) rs786204162
NM_000038.6(APC):c.2893_2896del (p.Asn965fs) rs2149879574
NM_000038.6(APC):c.3084T>G (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3193C>A (p.Gln1065Lys) rs1330361513
NM_000038.6(APC):c.3564T>G (p.Pro1188=)
NM_000038.6(APC):c.3581C>A (p.Ser1194Ter) rs2149894857
NM_000038.6(APC):c.3595_3596del (p.Lys1199fs) rs864622106
NM_000038.6(APC):c.3960G>A (p.Val1320=) rs987999780
NM_000038.6(APC):c.4099C>T (p.Gln1367Ter) rs121913328
NM_000038.6(APC):c.414G>A (p.Glu138=) rs1554069845
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.6(APC):c.423-17dup rs35031194
NM_000038.6(APC):c.423-33_423-17del
NM_000038.6(APC):c.4305A>G (p.Arg1435=)
NM_000038.6(APC):c.4317T>A (p.Pro1439=) rs769586752
NM_000038.6(APC):c.4538A>C (p.Glu1513Ala)
NM_000038.6(APC):c.4758G>A (p.Lys1586=) rs1060504890
NM_000038.6(APC):c.4796C>G (p.Ser1599Ter) rs1554086212
NM_000038.6(APC):c.4898C>A (p.Thr1633Lys) rs765215625
NM_000038.6(APC):c.4940C>A (p.Thr1647Lys)
NM_000038.6(APC):c.5490T>G (p.Asn1830Lys) rs1554086766
NM_000038.6(APC):c.5573G>T (p.Arg1858Leu) rs369831474
NM_000038.6(APC):c.5628G>T (p.Arg1876Ser) rs1064794942
NM_000038.6(APC):c.5957del (p.Pro1986fs) rs2149953403
NM_000038.6(APC):c.608A>G (p.Gln203Arg) rs1554072626
NM_000038.6(APC):c.6285T>C (p.Asp2095=) rs1580669392
NM_000038.6(APC):c.6386C>T (p.Ser2129Leu) rs587782301
NM_000038.6(APC):c.6447T>C (p.His2149=) rs1580670835
NM_000038.6(APC):c.6858C>T (p.Ala2286=) rs1580675660
NM_000038.6(APC):c.6906A>C (p.Ser2302=) rs1766330352
NM_000038.6(APC):c.7266T>A (p.Thr2422=) rs554878484
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7619_7623del (p.Pro2540fs) rs1580684796
NM_000038.6(APC):c.7696A>C (p.Arg2566=) rs1060504883
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.7892C>T (p.Ser2631Phe) rs730881269
NM_000038.6(APC):c.864A>G (p.Thr288=) rs1580511694
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_001127511.3(APC):c.-133C>T rs79896135
NM_001127511.3(APC):c.-134_-133insG rs1561393341
NM_001127511.3(APC):c.-134_-133insGG rs1561393341
NM_001127511.3(APC):c.-140C>G rs775297664
NM_001127511.3(APC):c.-151G>C rs1029997545

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