ClinVar Miner

List of variants in gene APC reported as pathogenic by OMIM

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
APC, 1-BP DEL, 3720T
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
APC, 5-BP DEL, NT3221
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.5(APC):c.730_731delAG rs387906228
NM_000038.6(APC):c.1059_1060insAAGGATGATAT (p.Pro354fs) rs1554079996
NM_000038.6(APC):c.1069dup (p.Ile357fs) rs387906232
NM_000038.6(APC):c.1100_1101del (p.Ser367fs) rs387906237
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) rs387906238
NM_000038.6(APC):c.1311_1312+1del rs397514030
NM_000038.6(APC):c.1369del (p.Ser457fs) rs387906229
NM_000038.6(APC):c.1458T>G (p.Tyr486Ter) rs2229992
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1500T>G (p.Tyr500Ter) rs387906230
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1695del (p.Val566fs) rs397514032
NM_000038.6(APC):c.1885_1886insA (p.Leu629fs) rs387906233
NM_000038.6(APC):c.2093T>A (p.Leu698Ter) rs137854582
NM_000038.6(APC):c.2138C>G (p.Ser713Ter) rs137854570
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter) rs137854571
NM_000038.6(APC):c.3359G>A (p.Gly1120Glu) rs28933379
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys) rs137854578
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs) rs387906234
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) rs387906236
NM_000038.6(APC):c.470G>A (p.Trp157Ter) rs137854576
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) rs587776520
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.5942del (p.Asn1981fs) rs397509433
NM_000038.6(APC):c.622C>T (p.Gln208Ter) rs137854583
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.839C>G (p.Ser280Ter) rs137854569
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239

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