ClinVar Miner

List of variants reported as uncertain significance for CDKL5 disorder by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000023.11:g.(?_18506935)_(18510854_?)dup
NM_003159.2(CDKL5):c.1116T>A (p.Ala372=)
NM_003159.2(CDKL5):c.1198A>C (p.Asn400His)
NM_003159.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.1286C>T (p.Pro429Leu)
NM_003159.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_003159.2(CDKL5):c.1891A>G (p.Ile631Val)
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_003159.2(CDKL5):c.2502G>T (p.Gln834His)
NM_003159.2(CDKL5):c.2682_2683insGGAA (p.Pro895Glyfs)
NM_003159.2(CDKL5):c.26T>C (p.Val9Ala)
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) rs369009993
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249
NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) rs866859766
NM_003159.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_003159.2(CDKL5):c.934A>G (p.Lys312Glu)
NM_003159.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_003159.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244

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