ClinVar Miner

List of variants studied for Familial adenomatous polyposis 1 by Pathway Genomics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.1685C>T (p.Thr562Met) rs587783034 0.00002
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys) rs587783036 0.00002
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.3462AGA[2] (p.Glu1157del) rs386833391
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
NM_000038.6(APC):c.622C>A (p.Gln208Lys) rs137854583
NM_000038.6(APC):c.6748G>A (p.Gly2250Ser) rs587783032

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