ClinVar Miner

List of variants in gene CDKL5 studied for Atypical Rett syndrome

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Total variants: 51
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HGVS dbSNP
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-189C>T rs786204994
NM_003159.2(CDKL5):c.-253_64+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_003159.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_003159.2(CDKL5):c.1311dupC (p.Ser438Glnfs) rs267608623
NM_003159.2(CDKL5):c.1341delC (p.Phe447Leufs) rs786204968
NM_003159.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_003159.2(CDKL5):c.1417dupA (p.Ile473Asnfs) rs786204970
NM_003159.2(CDKL5):c.145+2T>C rs267608430
NM_003159.2(CDKL5):c.1550delT (p.Phe517Serfs) rs786204972
NM_003159.2(CDKL5):c.163_166delGAAA (p.Glu55Argfs) rs267608433
NM_003159.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_003159.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_003159.2(CDKL5):c.1708G>T (p.Glu570Ter) rs267608644
NM_003159.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_003159.2(CDKL5):c.183delT (p.Met63Cysfs) rs62643608
NM_003159.2(CDKL5):c.1854delC (p.Asp618Glufs) rs786204975
NM_003159.2(CDKL5):c.1892_1893dupTA (p.Gly632Terfs) rs267608646
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.2047-1G>A rs267608650
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_003159.2(CDKL5):c.2343delG (p.Arg781Serfs) rs62643614
NM_003159.2(CDKL5):c.2376+5G>A rs267608657
NM_003159.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_003159.2(CDKL5):c.283-3_290del11 rs786204983
NM_003159.2(CDKL5):c.352C>T (p.Gln118Ter) rs267608453
NM_003159.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_003159.2(CDKL5):c.403+1G>A rs786204984
NM_003159.2(CDKL5):c.404-?_554+?del
NM_003159.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_003159.2(CDKL5):c.463+1G>A rs267608479
NM_003159.2(CDKL5):c.464-1G>A rs786204986
NM_003159.2(CDKL5):c.510_511dup (p.Tyr171Cysfs) rs786204988
NM_003159.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_003159.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.607G>T (p.Glu203Ter) rs267608505
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_003159.2(CDKL5):c.660_664dup (p.Thr222Ilefs) rs786204990
NM_003159.2(CDKL5):c.838_847del10 (p.Asp281Thrfs) rs61750250
NM_003159.2(CDKL5):c.942delA (p.Lys314Asnfs) rs786204992

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