ClinVar Miner

List of variants studied for Familial colorectal cancer by Mendelics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) rs918661445 0.00010
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) rs779208942 0.00002
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp) rs373000452 0.00002
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) rs777002868 0.00002
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) rs779102091 0.00002
NM_002691.4(POLD1):c.674G>A (p.Arg225His) rs144979965 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala) rs755166232 0.00001
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys) rs770036124 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5429A>T (p.His1810Leu) rs777390504 0.00001
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val) rs184253572 0.00001
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter) rs1451513451 0.00001
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) rs868850526
NM_002691.4(POLD1):c.1687-2A>G rs1568628299
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp) rs776773005
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly) rs148176230
NM_002691.4(POLD1):c.2874G>A (p.Leu958=) rs1568639764
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del) rs1555225139
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu) rs1565946576
NM_006231.4(POLE):c.4476C>G (p.His1492Gln) rs5744943
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn) rs1565937957
NM_006231.4(POLE):c.4945A>G (p.Met1649Val) rs1565937350
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg) rs1565935906
NM_006231.4(POLE):c.5573G>A (p.Arg1858His) rs1445288473
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr) rs1565931961
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del) rs757774039
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys) rs1060500872
NM_006231.4(POLE):c.6747+5G>A rs1555300791

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