ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as pathogenic

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Gene type:
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Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_000330.4(RS1):c.185-3090_185-3089insT rs1158418673 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.416del (p.Gln139fs) rs61752155 0.00001
NM_000330.4(RS1):c.535A>C (p.Asn179His) rs61753170 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
GRCh37/hg19 Xp22.13(chrX:18442534-18684145)x1
GRCh37/hg19 Xp22.13(chrX:18661283-18702225)x1
GRCh38/hg38 Xp22.13(chrX:18644057-18672058)x0
NC_000023.10:g.(?_18582587)_(18690188_?)del
NC_000023.10:g.(?_18662530)_(18690188_?)del
NC_000023.10:g.(?_18662550)_(18690188_?)del
NC_000023.10:g.(?_18663320)_(18665330_?)del
NC_000023.10:g.(?_18665301)_(18665462_?)del
NC_000023.11:g.(?_18506933)_(18653564_?)del
NM_000330.4(RS1):c.185-1G>C rs281865344
NM_000330.4(RS1):c.185-1G>T
NM_000330.4(RS1):c.188G>A (p.Cys63Tyr)
NM_000330.4(RS1):c.189C>A (p.Cys63Ter)
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) rs1927824776
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.208G>C (p.Gly70Arg) rs62645894
NM_000330.4(RS1):c.209G>C (p.Gly70Ala) rs62645895
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.215A>G (p.Glu72Gly) rs1927823799
NM_000330.4(RS1):c.215A>T (p.Glu72Val)
NM_000330.4(RS1):c.216G>C (p.Glu72Asp) rs104894932
NM_000330.4(RS1):c.218C>A (p.Ser73Ter) rs1927823203
NM_000330.4(RS1):c.218C>G (p.Ser73Ter) rs1927823203
NM_000330.4(RS1):c.219del (p.Glu75fs) rs62645900
NM_000330.4(RS1):c.221_237delinsTCCCCTGACCGGGTTAGAGT (p.Gly74_Asp79delinsValProTer) rs1555957756
NM_000330.4(RS1):c.227T>A (p.Val76Asp) rs2147194138
NM_000330.4(RS1):c.262C>T (p.Gln88Ter) rs61750459
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.276G>C (p.Trp92Cys) rs61752062
NM_000330.4(RS1):c.279T>A (p.Tyr93Ter) rs1057520548
NM_000330.4(RS1):c.284C>A (p.Ser95Ter)
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.287G>A (p.Trp96Ter) rs2147193970
NM_000330.4(RS1):c.288G>A (p.Trp96Ter) rs61752064
NM_000330.4(RS1):c.288G>C (p.Trp96Cys) rs61752064
NM_000330.4(RS1):c.293C>A (p.Ala98Glu) rs61752065
NM_000330.4(RS1):c.302C>T (p.Ala101Val) rs2147193941
NM_000330.4(RS1):c.311A>C (p.Asn104Thr) rs1927814979
NM_000330.4(RS1):c.316C>T (p.Gln106Ter) rs1386256334
NM_000330.4(RS1):c.318dup (p.Gly107fs) rs61752071
NM_000330.4(RS1):c.325G>A (p.Gly109Arg) rs104894934
NM_000330.4(RS1):c.325G>T (p.Gly109Trp) rs104894934
NM_000330.4(RS1):c.326+1G>T rs281865346
NM_000330.4(RS1):c.326+2T>G rs2147193875
NM_000330.4(RS1):c.326G>A (p.Gly109Glu) rs281865345
NM_000330.4(RS1):c.327-2_337del
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr) rs61752075
NM_000330.4(RS1):c.330T>A (p.Cys110Ter) rs1801161
NM_000330.4(RS1):c.332C>A (p.Ala111Asp) rs2147191414
NM_000330.4(RS1):c.332C>T (p.Ala111Val) rs2147191414
NM_000330.4(RS1):c.335_336dup (p.Leu113fs) rs1927705610
NM_000330.4(RS1):c.336G>T (p.Trp112Cys) rs61752144
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000330.4(RS1):c.370C>T (p.Gln124Ter) rs2147191361
NM_000330.4(RS1):c.371dup (p.Ile125fs)
NM_000330.4(RS1):c.372_373insTAGCCAGTGG (p.Ile125Ter) rs2147191359
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer) rs61752148
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
NM_000330.4(RS1):c.404G>A (p.Gly135Glu) rs61752152
NM_000330.4(RS1):c.407T>C (p.Ile136Thr) rs61752153
NM_000330.4(RS1):c.415C>T (p.Gln139Ter)
NM_000330.4(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.4(RS1):c.418G>T (p.Gly140Trp)
NM_000330.4(RS1):c.419G>A (p.Gly140Glu) rs61752157
NM_000330.4(RS1):c.421C>G (p.Arg141Gly) rs61752158
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.4(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser) rs1131691380
NM_000330.4(RS1):c.460C>T (p.Gln154Ter) rs61753164
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000330.4(RS1):c.464dup (p.Tyr155Ter) rs2147191194
NM_000330.4(RS1):c.466A>G (p.Arg156Gly) rs2147191190
NM_000330.4(RS1):c.481dup (p.Leu161fs) rs2147191149
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) rs1057516744
NM_000330.4(RS1):c.505C>T (p.Gln169Ter)
NM_000330.4(RS1):c.511G>A (p.Gly171Arg) rs2147191113
NM_000330.4(RS1):c.520del (p.Arg174fs) rs886041235
NM_000330.4(RS1):c.522+1G>A rs281865348
NM_000330.4(RS1):c.522+1G>T rs281865348
NM_000330.4(RS1):c.522+2T>A rs2147191083
NM_000330.4(RS1):c.523-2A>G rs281865349
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter) rs2147189125
NM_000330.4(RS1):c.573_574delinsTT (p.Pro192Ser) rs2147189048
NM_000330.4(RS1):c.574C>A (p.Pro192Thr) rs61753174
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.575C>A (p.Pro192His) rs61753175
NM_000330.4(RS1):c.575C>T (p.Pro192Leu) rs61753175
NM_000330.4(RS1):c.575_576insT (p.Ile194fs) rs1927604163
NM_000330.4(RS1):c.577C>T (p.Pro193Ser) rs281865351
NM_000330.4(RS1):c.577_579del (p.Pro193del)
NM_000330.4(RS1):c.578C>T (p.Pro193Leu) rs281865352
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.581dup (p.Ile195fs) rs2147189016
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000330.4(RS1):c.596T>C (p.Ile199Thr) rs281865356
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000330.4(RS1):c.599G>A (p.Arg200His) rs281865358
NM_000330.4(RS1):c.607C>A (p.Pro203Thr) rs1927600619
NM_000330.4(RS1):c.607C>T (p.Pro203Ser)
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.618G>A (p.Trp206Ter) rs281865359
NM_000330.4(RS1):c.619C>G (p.His207Asp) rs2147188931
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.626G>A (p.Arg209His) rs281865362
NM_000330.4(RS1):c.632C>T (p.Ala211Val) rs1602308821
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000330.4(RS1):c.637del (p.Arg213fs) rs2147188897
NM_000330.4(RS1):c.639del (p.Met214fs) rs281865366
NM_000330.4(RS1):c.644A>T (p.Glu215Val) rs2147188877
NM_000330.4(RS1):c.647T>C (p.Leu216Pro) rs281865368
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr) rs2147188856
NM_000330.4(RS1):c.656_657delinsAG (p.Cys219Ter)
NM_000330.4(RS1):c.667T>C (p.Cys223Arg) rs104894929
NM_000330.4(RS1):c.668G>A (p.Cys223Tyr) rs1057517816
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2497-?_*85del

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