ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic for Atypical Rett syndrome

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Total variants: 43
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs) rs267608623
NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) rs786204968
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) rs786204970
NM_001323289.2(CDKL5):c.145+2T>C rs267608430
NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) rs786204972
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter) rs267608644
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) rs786204975
NM_001323289.2(CDKL5):c.1892_1893dup (p.Gly632Ter) rs267608646
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_001323289.2(CDKL5):c.283-3_290del rs786204983
NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) rs267608453
NM_001323289.2(CDKL5):c.403+1G>A rs786204984
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.464-1G>A rs786204986
NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) rs786204988
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter) rs267608505
NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) rs786204990
NM_001323289.2(CDKL5):c.838_847del (p.Asp281fs) rs61750250
NM_001323289.2(CDKL5):c.942del (p.Lys314fs) rs786204992
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-253_64+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)
NM_003159.2(CDKL5):c.404-?_554+?del

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