ClinVar Miner

List of variants in gene CDKL5 reported as likely benign by RettBASE

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Total variants: 10
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1382A>G (p.Asn461Ser) rs267608629
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652
NM_001323289.2(CDKL5):c.283-43G>A rs267608448
NM_001323289.2(CDKL5):c.403+27A>G rs786204959
NM_001323289.2(CDKL5):c.403+49_403+53del rs267608473
NM_001323289.2(CDKL5):c.464-40_464-37del rs267608481
NM_001323289.2(CDKL5):c.978-49_978-41del rs267608554

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