ClinVar Miner

List of variants reported as likely benign 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: 21
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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 0.01301
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00487
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00461
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.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 0.00140
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00052
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00006
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
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.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971

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