ClinVar Miner

List of variants reported as pathogenic for Gardner syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
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.3927_3931del (p.Glu1309fs) rs121913224
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.622C>T (p.Gln208Ter) rs137854583
NM_000038.6(APC):c.839C>G (p.Ser280Ter) rs137854569
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568

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