ClinVar Miner

List of variants reported as pathogenic for Familial multiple polyposis syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1958+3A>G rs879254032
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239

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