ClinVar Miner

List of variants reported as uncertain significance for Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.3725C>T (p.Ser1242Phe) rs373213156 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys) rs768504121 0.00008
NM_006231.4(POLE):c.122C>T (p.Thr41Met) rs148269473 0.00006
NM_006231.4(POLE):c.179C>T (p.Thr60Ile) rs772684226 0.00006
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.2038C>T (p.Arg680Cys) rs764044031 0.00004
NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr) rs868832791 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.4306C>T (p.Arg1436Trp) rs764904030 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn) rs753660907 0.00003
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00003
NM_006231.4(POLE):c.5988C>G (p.Phe1996Leu) rs756828876 0.00003
NM_006231.4(POLE):c.710A>G (p.Lys237Arg) rs879762286 0.00003
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser) rs376546593 0.00002
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00002
NM_006231.4(POLE):c.4876C>T (p.Arg1626Cys) rs753713315 0.00002
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00002
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00002
NM_006231.4(POLE):c.1322C>T (p.Pro441Leu) rs775340163 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_006231.4(POLE):c.1516A>G (p.Met506Val) rs773634913 0.00001
NM_006231.4(POLE):c.1675C>T (p.Arg559Trp) rs753784391 0.00001
NM_006231.4(POLE):c.241G>A (p.Ala81Thr) rs749720207 0.00001
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln) rs534297483 0.00001
NM_006231.4(POLE):c.2682C>T (p.Gly894=) rs757453683 0.00001
NM_006231.4(POLE):c.2771G>A (p.Arg924His) rs763594644 0.00001
NM_006231.4(POLE):c.3122G>A (p.Arg1041Gln) rs774645622 0.00001
NM_006231.4(POLE):c.341G>A (p.Arg114Gln) rs375785166 0.00001
NM_006231.4(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656 0.00001
NM_006231.4(POLE):c.4139C>T (p.Ser1380Leu) rs762090058 0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127 0.00001
NM_006231.4(POLE):c.5131C>A (p.Gln1711Lys) rs774619692 0.00001
NM_006231.4(POLE):c.5275G>A (p.Asp1759Asn) rs768559928 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.547G>A (p.Ala183Thr) rs993340577 0.00001
NM_006231.4(POLE):c.5632C>T (p.Arg1878Cys) rs199979862 0.00001
NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn) rs905858506 0.00001
NM_006231.4(POLE):c.6286C>G (p.Leu2096Val) rs1049603207 0.00001
NM_006231.4(POLE):c.6317A>G (p.Lys2106Arg) rs762471347 0.00001
NM_006231.4(POLE):c.6384C>A (p.Asp2128Glu) rs758101414 0.00001
NM_006231.4(POLE):c.6460C>T (p.Pro2154Ser) rs778456846 0.00001
NM_006231.4(POLE):c.6673C>T (p.Arg2225Cys) rs765125852 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.1661G>A (p.Ser554Asn) rs1028317886
NM_006231.4(POLE):c.1669C>G (p.Pro557Ala)
NM_006231.4(POLE):c.1676G>C (p.Arg559Pro)
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.4(POLE):c.186G>T (p.Trp62Cys)
NM_006231.4(POLE):c.1924C>A (p.Pro642Thr) rs1178412345
NM_006231.4(POLE):c.2083T>G (p.Phe695Val) rs5744799
NM_006231.4(POLE):c.242C>T (p.Ala81Val) rs780246896
NM_006231.4(POLE):c.2734_2735delinsAT (p.Glu912Met) rs2135949435
NM_006231.4(POLE):c.2785A>G (p.Ile929Val) rs765066823
NM_006231.4(POLE):c.3283C>A (p.Pro1095Thr)
NM_006231.4(POLE):c.3465G>T (p.Lys1155Asn) rs1449239461
NM_006231.4(POLE):c.3479G>C (p.Arg1160Pro)
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.4031T>C (p.Leu1344Pro) rs368111350
NM_006231.4(POLE):c.4110G>A (p.Gln1370=)
NM_006231.4(POLE):c.4225G>A (p.Glu1409Lys) rs1060500845
NM_006231.4(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.4(POLE):c.4409T>C (p.Met1470Thr) rs2138550452
NM_006231.4(POLE):c.4640C>T (p.Pro1547Leu)
NM_006231.4(POLE):c.4643C>T (p.Pro1548Leu) rs779475320
NM_006231.4(POLE):c.4645C>A (p.Pro1549Thr) rs147500308
NM_006231.4(POLE):c.5008G>A (p.Asp1670Asn) rs1060500823
NM_006231.4(POLE):c.5237A>G (p.Asn1746Ser) rs377461656
NM_006231.4(POLE):c.5525A>G (p.His1842Arg) rs1060500795
NM_006231.4(POLE):c.5773A>C (p.Ile1925Leu) rs2042022859
NM_006231.4(POLE):c.6608T>C (p.Leu2203Pro)
NM_006231.4(POLE):c.6651G>A (p.Gln2217=) rs1593696233
NM_006231.4(POLE):c.6754A>C (p.Met2252Leu) rs759660507
NM_006231.4(POLE):c.787C>A (p.Leu263Ile) rs2043077432
NM_006231.4(POLE):c.825C>G (p.Asp275Glu) rs1483809345
NM_006231.4(POLE):c.944A>G (p.Glu315Gly) rs2542167677
NM_006231.4(POLE):c.965T>G (p.Phe322Cys)
NM_021807.4(EXOC4):c.1418-70589_1418-70578delinsA

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