ClinVar Miner

List of variants in gene POLE studied for Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.5553-43T>C rs5744970 0.68901
NM_006231.4(POLE):c.5812-21G>A rs5745005 0.67309
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.2562-48T>C rs4883592 0.53563
NM_006231.4(POLE):c.5173+39G>A rs5744951 0.51836
NM_006231.4(POLE):c.1359+43G>A rs4883555 0.50908
NM_006231.4(POLE):c.2864+37A>G rs5744844 0.50901
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.1686+32C>G rs762985435 0.00005
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.2049C>G (p.Tyr683Ter) rs1196356920 0.00001
NM_006231.4(POLE):c.2551G>A (p.Glu851Lys) rs903152944 0.00001
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028 0.00001
NM_006231.4(POLE):c.3019G>C (p.Ala1007Pro) rs747692201
NM_006231.4(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006231.4(POLE):c.6398_6407del (p.Val2133fs) rs2138431829
NM_006231.4(POLE):c.6571C>T (p.Gln2191Ter)

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