ClinVar Miner

List of variants reported as pathogenic for attenuated familial adenomatous polyposis by Pathway Genomics

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1744-2A>G rs587783035
NM_000038.6(APC):c.2107del (p.Ala703fs) rs587783030
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) rs587783029
NM_000038.6(APC):c.3814del (p.Ser1272fs) rs587783033
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4666del (p.Thr1556fs) rs587783031
NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer) rs730880250

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