ClinVar Miner

List of variants in gene CDKL5 reported as not provided by RettBASE

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.145+2T>C rs267608430
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2376+5G>A rs267608657
NM_001323289.2(CDKL5):c.2377-31T>C rs267608658
NM_001323289.2(CDKL5):c.283-43G>A rs267608448
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.403+49_403+53del rs267608473
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.463+22T>C rs267608478
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.464-40_464-37del rs267608481
NM_001323289.2(CDKL5):c.554+11G>A rs267608498
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.978-23T>C rs267608555
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.978-49_978-41del rs267608554
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001323289.2(CDKL5):c.99+29T>G rs267608422
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13)
NM_003159.2(CDKL5):c.65dupG rs267608420

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