ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported by GeneDx

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_003159.3(CDKL5):c.2981-263G>T rs33958554 0.66040
NM_000330.4(RS1):c.185-150A>C rs6633107 0.09221
NM_000330.4(RS1):c.522+66A>C rs41309707 0.06999
NM_000330.4(RS1):c.330T>C (p.Cys110=) rs1801161 0.06874
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01803
NM_003159.3(CDKL5):c.2980+179G>A rs142949334 0.00694
NM_003159.3(CDKL5):c.2981-136A>G rs139047348 0.00611
NM_003159.3(CDKL5):c.2980+288T>C rs151084706 0.00606
NM_003159.3(CDKL5):c.2981-22G>A rs58669795 0.00547
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_003159.3(CDKL5):c.2994C>T (p.Phe998=) rs150900695 0.00225
NM_003159.3(CDKL5):c.2797+19A>G rs375809338 0.00013
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00008
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_003159.3(CDKL5):c.2797+16C>T rs778757202 0.00007
NM_003159.3(CDKL5):c.2909G>A (p.Arg970Gln) rs570887192 0.00007
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00006
NM_003159.3(CDKL5):c.3004G>A (p.Val1002Ile) rs987192406 0.00005
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_003159.3(CDKL5):c.2980+20C>T rs181859624 0.00003
NM_003159.3(CDKL5):c.3008T>C (p.Met1003Thr) rs587783162 0.00003
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000330.4(RS1):c.185-3207G>A rs587783161 0.00002
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_003159.3(CDKL5):c.2867G>A (p.Arg956His) rs376557374 0.00002
NM_000330.4(RS1):c.184+3119G>A rs762576315 0.00001
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00001
NM_000330.4(RS1):c.184+3219A>T rs1928132748 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063 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.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.416del (p.Gln139fs) rs61752155 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_003159.3(CDKL5):c.2784G>A (p.Thr928=) rs369383134 0.00001
NM_003159.3(CDKL5):c.2829G>A (p.Lys943=) rs1057522669 0.00001
NM_003159.3(CDKL5):c.2881C>G (p.Pro961Ala) rs1064794669 0.00001
NM_003159.3(CDKL5):c.2890T>C (p.Tyr964His) rs781435432 0.00001
NM_003159.3(CDKL5):c.3021G>A (p.Leu1007=) rs1183803130 0.00001
GRCh37/hg19 Xp22.13(chrX:18442534-18684145)x1
NC_000023.11:g.18653675A>G rs56396491
NC_000023.11:g.18653676T>A rs34450419
NM_000330.4(RS1):c.*146del rs377648180
NM_000330.4(RS1):c.184+3146A>T
NM_000330.4(RS1):c.185-149_185-148del rs199718286
NM_000330.4(RS1):c.185-1G>T rs281865344
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928
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.221_237delinsTCCCCTGACCGGGTTAGAGT (p.Gly74_Asp79delinsValProTer) rs1555957756
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.288G>A (p.Trp96Ter) rs61752064
NM_000330.4(RS1):c.308T>G (p.Leu103Arg) rs61752069
NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer) rs61752148
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.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.543_544delinsAG (p.Asp181_Arg182delinsGluGly) rs1555957020
NM_000330.4(RS1):c.562A>G (p.Asn188Asp) rs2147189068
NM_000330.4(RS1):c.577C>T (p.Pro193Ser) rs281865351
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
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.608C>T (p.Pro203Leu) rs104894930
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.637C>T (p.Arg213Trp) rs281865365
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr) rs2147188856
NM_000330.4(RS1):c.668G>A (p.Cys223Tyr) rs1057517816
NM_003159.2(CDKL5):c.2798_2800delGAG rs1085307780
NM_003159.3(CDKL5):c.2741_2742del (p.Arg914fs) rs2518921932
NM_003159.3(CDKL5):c.2749T>G (p.Ser917Ala) rs2147192642
NM_003159.3(CDKL5):c.2797+14C>G rs1057520263
NM_003159.3(CDKL5):c.2797+14C>T rs1057520263
NM_003159.3(CDKL5):c.2834A>G (p.His945Arg) rs1057523930
NM_003159.3(CDKL5):c.2838_2840dup (p.Pro947_Cys948insPro) rs1064795115
NM_003159.3(CDKL5):c.2935C>A (p.Gln979Lys) rs775114662
NM_003159.3(CDKL5):c.2980+21G>C rs148531754
NM_003159.3(CDKL5):c.2999G>A (p.Arg1000Lys)
NM_003159.3(CDKL5):c.3028A>G (p.Arg1010Gly) rs2147201232

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