ClinVar Miner

List of variants in gene CENPE reported by Genetic Services Laboratory, University of Chicago

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001813.3(CENPE):c.3529A>T (p.Met1177Leu) rs35975325 0.00742
NM_001813.3(CENPE):c.1912A>G (p.Lys638Glu) rs114613121 0.00412
NM_001813.3(CENPE):c.4774A>C (p.Lys1592Gln) rs61756292 0.00410
NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser) rs61751594 0.00360
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser) rs114698062 0.00217
NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val) rs111281600 0.00175
NM_001813.3(CENPE):c.7602C>T (p.Ser2534=) rs148582447 0.00156
NM_001813.3(CENPE):c.6203G>C (p.Arg2068Thr) rs148969710 0.00094
NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg) rs116330917 0.00075
NM_001813.3(CENPE):c.7294C>T (p.Leu2432Phe) rs142518565 0.00074
NM_001813.3(CENPE):c.435C>T (p.Gly145=) rs187538280 0.00029
NM_001813.3(CENPE):c.7886G>A (p.Arg2629Gln) rs141321114 0.00024
NM_001813.3(CENPE):c.5082G>A (p.Val1694=) rs200547471 0.00016
NM_001813.3(CENPE):c.4995G>A (p.Thr1665=) rs142875576 0.00011
NM_001813.3(CENPE):c.304C>T (p.His102Tyr) rs758681737 0.00010
NM_001813.3(CENPE):c.4997A>G (p.Glu1666Gly) rs138953137 0.00006
NM_001813.3(CENPE):c.6645T>G (p.Leu2215=) rs112212702 0.00006
NM_001813.3(CENPE):c.3435T>A (p.Asn1145Lys) rs374126277 0.00004
NM_001813.3(CENPE):c.7202A>G (p.Glu2401Gly) rs762068581 0.00004
NM_001813.3(CENPE):c.739G>A (p.Ala247Thr) rs138379874 0.00004
NM_001813.3(CENPE):c.5137A>G (p.Ile1713Val) rs921819934 0.00002
NM_001813.3(CENPE):c.1566A>G (p.Glu522=) rs1553935539
NM_001813.3(CENPE):c.5563C>T (p.Gln1855Ter) rs1214805862
NM_001813.3(CENPE):c.7173T>G (p.His2391Gln) rs1195686700

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