ClinVar Miner

List of variants studied for Familial adenomatous polyposis 1 by OMIM

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
APC deletion
APC, 5-BP DEL, NT3221
NC_000005.10:g.112837231_112890913del
NC_000005.9:g.112172610_112244011del
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.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.1885_1886insA (p.Leu629fs) rs387906233
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423-1G>A rs397514031
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.5942del (p.Asn1981fs) rs397509433
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_001127511.3(APC):c.-190G>A rs879253785
NM_001127511.3(APC):c.-192A>T rs879253784

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