ClinVar Miner

List of variants reported for Familial adenomatous polyposis 1 by ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
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.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000038.6(APC):c.1549-13A>T rs587781267 0.00004
NM_000038.6(APC):c.995G>A (p.Arg332Gln) rs377665107 0.00004
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.1487C>T (p.Thr496Ile) rs1369979539 0.00001
NM_000038.6(APC):c.1746A>G (p.Glu582=) rs876658969 0.00001
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr) rs730882128 0.00001
NC_000005.9:g.(?_112116481)_(112179829_?)dup
NM_000038.6(APC):c.1105TTG[1] (p.Leu370del) rs1580529312
NM_000038.6(APC):c.123A>G (p.Ala41=) rs1561445056
NM_000038.6(APC):c.1240del (p.Arg414fs) rs1554080082
NM_000038.6(APC):c.1311_1312+1del rs397514030
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1626G>C (p.Gln542His) rs1580569744
NM_000038.6(APC):c.1627G>T (p.Val543Phe) rs1554082080
NM_000038.6(APC):c.1900dup (p.Ser634fs)
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.235A>G (p.Ser79Gly) rs1001856924
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) rs1114167603
NM_000038.6(APC):c.3083G>A (p.Ser1028Asn) rs1114167617
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3084T>G (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.32dup (p.Gln12fs) rs1561444620
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.423-11A>G rs1580358224
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4778del (p.Lys1593fs) rs1554086185
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.5761G>A (p.Gly1921Ser) rs1060503324
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.645+9C>A rs863224286
NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del) rs1057517569
NM_000038.6(APC):c.715G>C (p.Ala239Pro) rs777760565
NM_000038.6(APC):c.754A>G (p.Thr252Ala) rs1580454642
NM_000038.6(APC):c.835-8A>G rs1064793022
NM_000038.6(APC):c.8438C>A (p.Thr2813Lys) rs1060503275
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter) rs876660375
NM_000038.6(APC):c.8530T>G (p.Ter2844Glu) rs1766772190
Single allele

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