ClinVar Miner

List of variants in gene CEP89 studied for not specified

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_032816.5(CEP89):c.873G>A (p.Ala291=) rs138753622 0.00028
NM_032816.5(CEP89):c.1372C>T (p.Arg458Cys) rs141289026 0.00025
NM_032816.5(CEP89):c.2012G>A (p.Arg671His) rs181626301 0.00013
NM_032816.5(CEP89):c.65C>T (p.Pro22Leu) rs777663094 0.00008
NM_032816.5(CEP89):c.76G>A (p.Val26Ile) rs201497197 0.00007
NM_032816.5(CEP89):c.872C>T (p.Ala291Val) rs145838212 0.00007
NM_032816.5(CEP89):c.961A>G (p.Thr321Ala) rs150663365 0.00007
NM_032816.5(CEP89):c.1271G>A (p.Arg424His) rs182600896 0.00005
NM_032816.5(CEP89):c.694T>C (p.Tyr232His) rs144191823 0.00005
NM_032816.5(CEP89):c.2038G>A (p.Ala680Thr) rs770609431 0.00004
NM_032816.5(CEP89):c.1363C>A (p.His455Asn) rs544449039 0.00003
NM_032816.5(CEP89):c.226C>T (p.Arg76Trp) rs577457835 0.00003
NM_032816.5(CEP89):c.2339C>A (p.Ala780Asp) rs1213456682 0.00003
NM_032816.5(CEP89):c.249T>G (p.Ser83Arg) rs534382678 0.00003
NM_032816.5(CEP89):c.278A>G (p.Tyr93Cys) rs756618956 0.00003
NM_032816.5(CEP89):c.1031G>T (p.Ser344Ile) rs201851222 0.00002
NM_032816.5(CEP89):c.1653C>G (p.Ser551Arg) rs775414751 0.00002
NM_032816.5(CEP89):c.2222C>T (p.Thr741Met) rs769271748 0.00002
NM_032816.5(CEP89):c.392C>G (p.Thr131Ser) rs111238299 0.00002
NM_032816.5(CEP89):c.100C>T (p.Arg34Cys) rs141650808 0.00001
NM_032816.5(CEP89):c.1114G>A (p.Ala372Thr) rs141968456 0.00001
NM_032816.5(CEP89):c.1162A>C (p.Lys388Gln) rs563946570 0.00001
NM_032816.5(CEP89):c.1228C>G (p.Gln410Glu) rs1970293814 0.00001
NM_032816.5(CEP89):c.1462G>A (p.Glu488Lys) rs748017973 0.00001
NM_032816.5(CEP89):c.1511C>T (p.Ser504Leu) rs764278381 0.00001
NM_032816.5(CEP89):c.161C>T (p.Ala54Val) rs770574825 0.00001
NM_032816.5(CEP89):c.1689del (p.Asn563fs) rs1969764452 0.00001
NM_032816.5(CEP89):c.1829G>T (p.Gly610Val) rs1304693842 0.00001
NM_032816.5(CEP89):c.1967G>A (p.Gly656Asp) rs1051318623 0.00001
NM_032816.5(CEP89):c.2237A>T (p.Gln746Leu) rs908409519 0.00001
NM_032816.5(CEP89):c.2308G>A (p.Asp770Asn) rs1427615216 0.00001
NM_032816.5(CEP89):c.2318C>T (p.Ser773Phe) rs929169627 0.00001
NM_032816.5(CEP89):c.404C>T (p.Ser135Phe) rs1476881887 0.00001
NM_032816.5(CEP89):c.704T>C (p.Ile235Thr) rs767437322 0.00001
NM_032816.5(CEP89):c.742A>G (p.Met248Val) rs759108044 0.00001
NM_032816.5(CEP89):c.871G>A (p.Ala291Thr) rs759305087 0.00001
NM_032816.5(CEP89):c.98C>T (p.Pro33Leu) rs1358071100 0.00001
NM_032816.5(CEP89):c.1030A>G (p.Ser344Gly)
NM_032816.5(CEP89):c.1058A>G (p.Lys353Arg) rs1054442620
NM_032816.5(CEP89):c.1097T>C (p.Leu366Pro) rs990307147
NM_032816.5(CEP89):c.112C>A (p.Pro38Thr)
NM_032816.5(CEP89):c.118A>G (p.Ser40Gly)
NM_032816.5(CEP89):c.121C>A (p.Pro41Thr)
NM_032816.5(CEP89):c.1260T>G (p.Ser420Arg)
NM_032816.5(CEP89):c.1335G>T (p.Glu445Asp)
NM_032816.5(CEP89):c.1486A>C (p.Lys496Gln)
NM_032816.5(CEP89):c.1528G>C (p.Val510Leu) rs778868993
NM_032816.5(CEP89):c.1595G>C (p.Arg532Thr)
NM_032816.5(CEP89):c.1671C>G (p.Asn557Lys) rs2145888528
NM_032816.5(CEP89):c.1700A>C (p.Glu567Ala) rs377584191
NM_032816.5(CEP89):c.1717G>A (p.Ala573Thr)
NM_032816.5(CEP89):c.181T>G (p.Leu61Val)
NM_032816.5(CEP89):c.1855C>G (p.Arg619Gly)
NM_032816.5(CEP89):c.191G>T (p.Arg64Leu) rs116019599
NM_032816.5(CEP89):c.2029G>C (p.Glu677Gln) rs45470694
NM_032816.5(CEP89):c.2041G>C (p.Gly681Arg) rs777561706
NM_032816.5(CEP89):c.2117A>T (p.Gln706Leu)
NM_032816.5(CEP89):c.2126A>G (p.Gln709Arg)
NM_032816.5(CEP89):c.2170T>C (p.Ser724Pro) rs1049468213
NM_032816.5(CEP89):c.2178C>A (p.Phe726Leu)
NM_032816.5(CEP89):c.2286G>C (p.Gln762His) rs1599701791
NM_032816.5(CEP89):c.2302G>A (p.Gly768Ser) rs1442998111
NM_032816.5(CEP89):c.2329A>C (p.Lys777Gln) rs2513628494
NM_032816.5(CEP89):c.2341C>T (p.Pro781Ser)
NM_032816.5(CEP89):c.2345C>T (p.Thr782Ile)
NM_032816.5(CEP89):c.383A>G (p.Asp128Gly)
NM_032816.5(CEP89):c.409G>C (p.Gly137Arg) rs756192782
NM_032816.5(CEP89):c.644G>A (p.Cys215Tyr)
NM_032816.5(CEP89):c.652C>T (p.Pro218Ser) rs142183812
NM_032816.5(CEP89):c.782T>G (p.Leu261Arg) rs772485931
NM_032816.5(CEP89):c.815A>G (p.Gln272Arg)
NM_032816.5(CEP89):c.862G>A (p.Ala288Thr) rs975086492
NM_032816.5(CEP89):c.88G>C (p.Ala30Pro) rs1356874927
NM_032816.5(CEP89):c.977A>G (p.Asn326Ser)

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