ClinVar Miner

List of variants in gene APC reported as benign by Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.4055T>C (p.Val1352Ala) rs528724202 0.00004
NM_000038.6(APC):c.883A>G (p.Ser295Gly) rs587780611 0.00004
NM_000038.6(APC):c.280C>A (p.Arg94Ser) rs550945533 0.00002
NM_000038.6(APC):c.5758C>G (p.Arg1920Gly) rs587779800 0.00002
NM_000038.6(APC):c.2733A>T (p.Glu911Asp) rs770018276 0.00001
NM_000038.6(APC):c.5264C>T (p.Ala1755Val) rs771967537 0.00001
NM_000038.6(APC):c.235A>G (p.Ser79Gly) rs1001856924
NM_000038.6(APC):c.3376A>G (p.Ser1126Gly) rs1561584350
NM_000038.6(APC):c.3746G>C (p.Cys1249Ser)
NM_000038.6(APC):c.6209G>T (p.Gly2070Val)
NM_000038.6(APC):c.715G>C (p.Ala239Pro) rs777760565

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