ClinVar Miner

List of variants in gene APC reported as uncertain significance by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_001127511.3(APC):c.-166C>T rs904001781 0.00043
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 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.3245C>G (p.Thr1082Ser) rs730881244 0.00004
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) rs730881249 0.00004
NM_000038.6(APC):c.776G>A (p.Arg259Gln) rs767457050 0.00004
NM_000038.6(APC):c.883A>G (p.Ser295Gly) rs587780611 0.00004
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile) rs760686348 0.00003
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala) rs730881260 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_001127511.3(APC):c.71C>T (p.Ser24Phe) rs770241997 0.00003
NM_000038.6(APC):c.2026A>G (p.Ile676Val) rs745529713 0.00002
NM_000038.6(APC):c.212G>A (p.Arg71His) rs750503329 0.00001
NM_000038.6(APC):c.2666A>G (p.Lys889Arg) rs1350986347 0.00001
NM_000038.6(APC):c.2668G>A (p.Val890Ile) rs779998847 0.00001
NM_000038.6(APC):c.2785C>T (p.His929Tyr) rs1183098771 0.00001
NM_000038.6(APC):c.281G>A (p.Arg94His) rs774229223 0.00001
NM_000038.6(APC):c.4364A>G (p.Asn1455Ser) rs751262428 0.00001
NM_000038.6(APC):c.4766G>A (p.Arg1589His) rs374048423 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5264C>T (p.Ala1755Val) rs771967537 0.00001
NM_000038.6(APC):c.6446A>C (p.His2149Pro) rs749230730 0.00001
NM_000038.6(APC):c.6674C>G (p.Ser2225Cys) rs759307079 0.00001
NM_000038.6(APC):c.715G>A (p.Ala239Thr) rs777760565 0.00001
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro) rs769889352 0.00001
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys) rs774952444 0.00001
NM_000038.6(APC):c.8203G>A (p.Gly2735Arg) rs376392084 0.00001
NM_000038.6(APC):c.918T>G (p.Ser306Arg) rs730881231 0.00001
NM_001127511.3(APC):c.-68G>C rs1163893701 0.00001
NM_001354897.2(APC):c.-269G>A rs1031191403 0.00001
NM_000038.6(APC):c.1124G>A (p.Gly375Asp) rs1554080027
NM_000038.6(APC):c.1159C>T (p.Leu387Phe)
NM_000038.6(APC):c.1211T>C (p.Ile404Thr) rs1762855929
NM_000038.6(APC):c.1214G>A (p.Arg405Gln) rs587782383
NM_000038.6(APC):c.1279C>A (p.His427Asn) rs587779781
NM_000038.6(APC):c.1703G>A (p.Ser568Asn) rs962373452
NM_000038.6(APC):c.1710A>C (p.Lys570Asn) rs1182822563
NM_000038.6(APC):c.1754T>A (p.Leu585His)
NM_000038.6(APC):c.2181G>C (p.Arg727Ser) rs1346075889
NM_000038.6(APC):c.2552G>A (p.Ser851Asn) rs1554084260
NM_000038.6(APC):c.2567G>A (p.Arg856His) rs757164742
NM_000038.6(APC):c.2575G>T (p.Gly859Cys) rs919202692
NM_000038.6(APC):c.2756G>T (p.Arg919Ile)
NM_000038.6(APC):c.2819C>T (p.Ser940Leu) rs544709767
NM_000038.6(APC):c.2970T>G (p.Asp990Glu) rs1397548815
NM_000038.6(APC):c.3207G>T (p.Arg1069Ser) rs762867687
NM_000038.6(APC):c.3560T>C (p.Ile1187Thr) rs730881246
NM_000038.6(APC):c.3707C>T (p.Ala1236Val)
NM_000038.6(APC):c.3742A>G (p.Thr1248Ala) rs2149898167
NM_000038.6(APC):c.3890A>T (p.Asp1297Val)
NM_000038.6(APC):c.3891T>G (p.Asp1297Glu) rs1580641196
NM_000038.6(APC):c.4184G>A (p.Ser1395Asn)
NM_000038.6(APC):c.4293_4316dup (p.Pro1441_Pro1442insSerArgSerLysThrProProPro)
NM_000038.6(APC):c.4440G>C (p.Gln1480His) rs876659881
NM_000038.6(APC):c.4481A>G (p.Glu1494Gly) rs2149915821
NM_000038.6(APC):c.4552A>G (p.Lys1518Glu) rs1554085958
NM_000038.6(APC):c.4665_4667del (p.Lys1555_Thr1556delinsAsn)
NM_000038.6(APC):c.466G>A (p.Asp156Asn) rs1554071538
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.4766G>T (p.Arg1589Leu) rs374048423
NM_000038.6(APC):c.4850T>C (p.Leu1617Pro)
NM_000038.6(APC):c.5272T>C (p.Ser1758Pro) rs1765907418
NM_000038.6(APC):c.5305A>C (p.Lys1769Gln)
NM_000038.6(APC):c.5335A>T (p.Ile1779Leu) rs1255903182
NM_000038.6(APC):c.5450A>G (p.Lys1817Arg)
NM_000038.6(APC):c.5740G>A (p.Ala1914Thr)
NM_000038.6(APC):c.5894A>G (p.His1965Arg) rs773776516
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6358G>C (p.Ala2120Pro) rs754015152
NM_000038.6(APC):c.6359C>T (p.Ala2120Val) rs1580669989
NM_000038.6(APC):c.650G>C (p.Arg217Thr)
NM_000038.6(APC):c.6717CTC[1] (p.Ser2242del) rs1766283239
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp) rs750960862
NM_000038.6(APC):c.7297G>A (p.Glu2433Lys) rs1766439260
NM_000038.6(APC):c.730-14C>G
NM_000038.6(APC):c.7540A>T (p.Thr2514Ser) rs545125246
NM_000038.6(APC):c.7853A>G (p.Asn2618Ser) rs1580687270
NM_000038.6(APC):c.7867A>G (p.Thr2623Ala) rs1060503368
NM_000038.6(APC):c.7898G>T (p.Gly2633Val) rs1766594323
NM_000038.6(APC):c.8147T>A (p.Val2716Glu) rs1766663996
NM_000038.6(APC):c.8245T>A (p.Ser2749Thr) rs1064794391
NM_000038.6(APC):c.98A>T (p.His33Leu)
NM_001127511.3(APC):c.-131G>C rs572582235
NM_001127511.3(APC):c.-133_-132insA rs1750582620
NM_001127511.3(APC):c.1A>T (p.Met1Leu) rs189807660
NM_001127511.3(APC):c.91A>G (p.Arg31Gly) rs1302045127

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.