ClinVar Miner

List of variants in gene APC reported as likely pathogenic for Familial multiple polyposis syndrome

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter) rs754122018 0.00001
NM_000038.6(APC):c.835-4T>G rs756807560 0.00001
NC_000005.9:g.(112103088_112111325)_(112116601_112128142)del
NM_000038.6(APC):c.1206_1207del (p.Glu403fs) rs1762855243
NM_000038.6(APC):c.1246dup (p.Tyr416fs) rs1060503366
NM_000038.6(APC):c.1313-1G>T rs2149791738
NM_000038.6(APC):c.1341T>A (p.Cys447Ter) rs1561545947
NM_000038.6(APC):c.1409-2A>G rs1064794163
NM_000038.6(APC):c.1466_1467del (p.Thr489fs) rs1763774140
NM_000038.6(APC):c.1477_1478dup (p.Ser494fs)
NM_000038.6(APC):c.1499_1500dup (p.Ala501fs)
NM_000038.6(APC):c.1514del (p.Ala504_Leu505insTer)
NM_000038.6(APC):c.1530del (p.Phe510fs)
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1958+1_1958+2dup rs1561569606
NM_000038.6(APC):c.1958+2T>G rs2149844646
NM_000038.6(APC):c.2053_2054del (p.Trp685fs) rs2149859523
NM_000038.6(APC):c.2434_2443delinsCC (p.Asp812fs) rs1554084159
NM_000038.6(APC):c.2943del (p.Ser982fs) rs2149880739
NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs) rs1554084650
NM_000038.6(APC):c.3258_3259del (p.Leu1087fs)
NM_000038.6(APC):c.3443_3444insG (p.Ser1148_Glu1149insTer) rs2149892043
NM_000038.6(APC):c.3854_3855dup (p.Glu1286fs) rs1561588017
NM_000038.6(APC):c.3875_3882delinsAGATGAAATAGGATGTAAGCA (p.Thr1292_Gln1294delinsLysMetLysTer) rs1765543308
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.4054_4063del (p.Val1352fs) rs1561589459
NM_000038.6(APC):c.4255del (p.Ser1419fs) rs727504420
NM_000038.6(APC):c.4479_5268del (p.Glu1494fs) rs2149915790
NM_000038.6(APC):c.4508del (p.Ser1503fs) rs1580649018
NM_000038.6(APC):c.450_483del (p.Lys150fs)
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter) rs774847203
NM_000038.6(APC):c.4873del (p.Gln1625fs) rs1554086262
NM_000038.6(APC):c.4875del (p.Gln1625fs) rs587779794
NM_000038.6(APC):c.4970dup (p.Ser1658fs) rs1554086340
NM_000038.6(APC):c.4987G>T (p.Glu1663Ter) rs758987855
NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs) rs1561598017
NM_000038.6(APC):c.531+2T>A rs863225365
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.5585dup (p.Leu1862fs) rs1554086823
NM_000038.6(APC):c.5718del (p.Ala1907fs) rs1554086923
NM_000038.6(APC):c.646-2A>G rs777848503
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) rs1554087515
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7701_7702del (p.Gly2568fs)
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) rs876659280
NM_000038.6(APC):c.778C>T (p.Gln260Ter)
NM_001127510.3(APC):c.1917dup (p.Arg640fs) rs397515732

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