ClinVar Miner

List of variants reported as benign by ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

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Total variants: 17
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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.1635G>A (p.Ala545=) rs351771 0.59150
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000038.6(APC):c.1549-13A>T rs587781267 0.00004
NM_000038.6(APC):c.995G>A (p.Arg332Gln) rs377665107 0.00004
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.1746A>G (p.Glu582=) rs876658969 0.00001
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.715G>C (p.Ala239Pro) rs777760565

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