ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3484C>A rs33958554 0.66040
NM_000330.4(RS1):c.185-150A>C rs6633107 0.09819
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 0.01920
NM_000330.4(RS1):c.185-3439C>T rs142949334 0.00694
NM_000330.4(RS1):c.184+3357T>C rs139047348 0.00664
NM_000330.4(RS1):c.185-3548A>G rs151084706 0.00654
NM_000330.4(RS1):c.184+3243C>T rs58669795 0.00568
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000330.4(RS1):c.184+3208G>A rs150900695 0.00231
NM_000330.4(RS1):c.326+1082T>C rs375809338 0.00013
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00007
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_000330.4(RS1):c.326+1085G>A rs778757202 0.00007
NM_000330.4(RS1):c.184+3198C>T rs987192406 0.00006
NM_000330.4(RS1):c.185-3189C>T rs570887192 0.00006
NM_000330.4(RS1):c.185-3221G>C rs374054249 0.00004
NM_000330.4(RS1):c.184+3194A>G rs587783162 0.00003
NM_000330.4(RS1):c.184+3119G>A rs762576315 0.00002
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00002
NM_000330.4(RS1):c.185-3147C>T rs376557374 0.00002
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_000330.4(RS1):c.184+3181C>T rs1183803130 0.00001
NM_000330.4(RS1):c.185-3109C>T rs1057522669 0.00001
NM_000330.4(RS1):c.185-3161G>C rs1064794669 0.00001
NM_000330.4(RS1):c.185-3170A>G rs781435432 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000330.4(RS1):c.185-3280G>A rs181859624 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 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+1114C>T rs369383134 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
GRCh37/hg19 Xp22.13(chrX:18442534-18684145)x1
NM_000330.4(RS1):c.*146del rs377648180
NM_000330.4(RS1):c.184+2977A>T rs34450419
NM_000330.4(RS1):c.184+2978T>C rs56396491
NM_000330.4(RS1):c.184+3174T>C rs2147201232
NM_000330.4(RS1):c.184+3219A>T
NM_000330.4(RS1):c.185-149_185-148del rs199718286
NM_000330.4(RS1):c.185-1G>T
NM_000330.4(RS1):c.185-3078_185-3076del rs1085307780
NM_000330.4(RS1):c.185-3114T>C rs1057523930
NM_000330.4(RS1):c.185-3119_185-3117dup rs1064795115
NM_000330.4(RS1):c.185-3215G>T rs775114662
NM_000330.4(RS1):c.185-3281C>G rs148531754
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>C (p.Glu72Gln) rs104894928
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.286T>C (p.Trp96Arg) rs61752063
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.326+1087G>A rs1057520263
NM_000330.4(RS1):c.326+1087G>C rs1057520263
NM_000330.4(RS1):c.326+1149A>C rs2147192642
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.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

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