ClinVar Miner

List of variants reported as uncertain significance for Colon cancer

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000038.6(APC):c.1803G>C (p.Glu601Asp) rs1447250546 0.00001
NM_000249.4(MLH1):c.1141C>T (p.His381Tyr) rs63750557 0.00001
NM_000251.3(MSH2):c.605C>T (p.Pro202Leu) rs1060502002 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_000038.6(APC):c.2986A>G (p.Ser996Gly) rs1554084628
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) rs754067085
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) rs768369050
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) rs768922376
NM_000455.5(STK11):c.31A>T (p.Met11Leu) rs753834428

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