ClinVar Miner

List of variants in gene CDKL5 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg) rs587783153 0.00001
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met) rs888325600 0.00001
NM_001323289.2(CDKL5):c.-7T>G
NM_001323289.2(CDKL5):c.1109A>G (p.Asn370Ser)
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1555T>C (p.Ser519Pro)
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs) rs587783124
NM_001323289.2(CDKL5):c.2822A>G (p.Tyr941Cys) rs1291397963
NM_001323289.2(CDKL5):c.2847G>A (p.Met949Ile)
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) rs786204987

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