ClinVar Miner

List of variants reported 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 Fulgent Genetics, Fulgent Genetics

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.-47G>T rs1014146082 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.34G>A (p.Asp12Asn) rs1355767159 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2225G>A (p.Arg742His) rs116360781 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724

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