ClinVar Miner

List of variants in gene CEP63 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001353108.3(CEP63):c.1067+7A>G rs11927068 0.32111
NM_001353108.3(CEP63):c.1952C>T (p.Ser651Leu) rs1127826 0.28596
NM_001353108.3(CEP63):c.63T>C (p.Cys21=) rs9827878 0.15593
NM_001353108.3(CEP63):c.555G>C (p.Gln185His) rs114108011 0.02124
NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys) rs34189216 0.00729
NM_001353108.3(CEP63):c.567C>A (p.Val189=) rs146845434 0.00078
NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser) rs140583017 0.00057
NM_001353108.3(CEP63):c.1620G>A (p.Arg540=) rs140668390 0.00037
NM_001353108.3(CEP63):c.1596G>A (p.Gln532=) rs149211765 0.00034
NM_001353108.3(CEP63):c.2038C>T (p.Arg680Cys) rs141217824 0.00024
NM_001353108.3(CEP63):c.572G>A (p.Arg191Gln) rs529386244 0.00022
NM_001353108.3(CEP63):c.1633A>G (p.Thr545Ala) rs1017109847 0.00013
NM_001353108.3(CEP63):c.962A>T (p.Tyr321Phe) rs367734078 0.00013
NM_001353108.3(CEP63):c.1933C>G (p.Gln645Glu) rs200642598 0.00006
NM_001353108.3(CEP63):c.5A>T (p.Glu2Val) rs200994552 0.00006
NM_001353108.3(CEP63):c.653A>G (p.Asp218Gly) rs200697453 0.00004
NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln) rs371924128 0.00004
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001353108.3(CEP63):c.1829G>T (p.Arg610Met) rs375438421 0.00002
NM_001353108.3(CEP63):c.1069T>C (p.Leu357=) rs797045458 0.00001
NM_001353108.3(CEP63):c.1604A>G (p.Lys535Arg) rs746682690 0.00001
NM_001353108.3(CEP63):c.282G>A (p.Met94Ile) rs544307188 0.00001
NM_001353108.3(CEP63):c.1331G>A (p.Arg444Gln) rs140451650
NM_001353108.3(CEP63):c.1673+12dup rs35934324
NM_001353108.3(CEP63):c.1714G>A (p.Glu572Lys) rs1553789251
NM_001353108.3(CEP63):c.193A>C (p.Arg65=) rs142629260
NM_001353108.3(CEP63):c.1973C>A (p.Pro658His) rs781235688
NM_001353108.3(CEP63):c.783A>G (p.Leu261=) rs1278502113
NM_001353108.3(CEP63):c.989_992del (p.Asp330fs) rs797045459
NM_025180.5(CEP63):c.1381_1383del rs766435188

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