ClinVar Miner

List of variants reported as pathogenic for familial adenomatous polyposis 1 by University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1605dup (p.Glu536Ter) rs2149813858
NM_000038.6(APC):c.2527_2530del (p.Ser843fs) rs879254091
NM_000038.6(APC):c.2544dup (p.Asp849fs) rs2149871984
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs) rs587779353
NM_000038.6(APC):c.3471_3474del (p.Glu1157fs) rs786203020
NM_000038.6(APC):c.3784del (p.Tyr1262fs) rs2149898912
NM_000038.6(APC):c.3905del (p.Leu1302fs) rs2149901744
NM_000038.6(APC):c.3925G>T (p.Glu1309Ter) rs1321583762
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4384_4385del (p.Lys1462fs) rs1554085846
NM_000038.6(APC):c.4459dup (p.Thr1487fs) rs2149915256
NM_000038.6(APC):c.4728dup (p.Glu1577fs) rs2149922239

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