ClinVar Miner

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

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Total variants: 28
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HGVS dbSNP
NM_000038.6(APC):c.1206_1207del (p.Glu403fs)
NM_000038.6(APC):c.1246dup (p.Tyr416fs) rs1060503366
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)
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1917dup (p.Arg640fs) rs397515732
NM_000038.6(APC):c.1958+1_1958+2dup rs1561569606
NM_000038.6(APC):c.2434_2443delinsCC (p.Asp812fs) rs1554084159
NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs) rs1554084650
NM_000038.6(APC):c.3854_3855dup (p.Glu1286fs) rs1561588017
NM_000038.6(APC):c.3875_3882delinsAGATGAAATAGGATGTAAGCA (p.Thr1292_Gln1294delinsLysMetLysTer)
NM_000038.6(APC):c.4054_4063del (p.Val1352fs) rs1561589459
NM_000038.6(APC):c.4255del (p.Ser1419fs) rs727504420
NM_000038.6(APC):c.4508del (p.Ser1503fs) rs1580649018
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.5038C>T (p.Gln1680Ter) rs754122018
NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs) rs1561598017
NM_000038.6(APC):c.531+2T>A rs863225365
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.7715C>G (p.Ser2572Ter) rs876659280
NM_000038.6(APC):c.835-4T>G rs756807560

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