ClinVar Miner

List of variants in gene CDKL5, RS1 studied for Juvenile retinoschisis

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01920
NM_000330.4(RS1):c.523-10A>C rs142428831 0.00691
NM_000330.4(RS1):c.258G>A (p.Pro86=) rs147290350 0.00472
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_000330.4(RS1):c.285G>A (p.Ser95=) rs143920122 0.00018
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000330.4(RS1):c.521G>A (p.Arg174Gln) rs765547068 0.00003
NM_000330.4(RS1):c.257C>T (p.Pro86Leu) rs761385911 0.00002
NM_000330.4(RS1):c.320G>A (p.Gly107Asp) rs143682861 0.00002
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_000330.4(RS1):c.471C>T (p.Thr157=) rs754381417 0.00002
NM_000330.4(RS1):c.213C>T (p.Phe71=) rs764292483 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.326+8G>C rs752870628 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000330.4(RS1):c.572G>A (p.Arg191Gln) rs1402116265 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_000330.4(RS1):c.185-1G>C rs281865344
NM_000330.4(RS1):c.187T>C (p.Cys63Arg) rs2147194234
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.209G>A (p.Gly70Asp) 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.216G>C (p.Glu72Asp) rs104894932
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
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.320G>T (p.Gly107Val) rs143682861
NM_000330.4(RS1):c.327-14_410del rs2147191292
NM_000330.4(RS1):c.327-6C>A rs372728604
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.377A>G (p.Asp126Gly)
NM_000330.4(RS1):c.409C>T (p.Leu137Phe) rs1927700931
NM_000330.4(RS1):c.419G>A (p.Gly140Glu) rs61752157
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.439T>C (p.Trp147Arg) rs2147191229
NM_000330.4(RS1):c.455del (p.Ser152fs)
NM_000330.4(RS1):c.460C>G (p.Gln154Glu) rs61753164
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000330.4(RS1):c.488G>A (p.Trp163Ter) rs2147191142
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) rs1057516744
NM_000330.4(RS1):c.522+1G>A rs281865348
NM_000330.4(RS1):c.523-10_523-7del rs746069375
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter) rs2147189125
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.578C>A (p.Pro193His) rs281865352
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) rs281865357
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.637C>T (p.Arg213Trp) rs281865365
NM_000330.4(RS1):c.649del (p.Leu217fs) rs1927598075
NM_000330.4(RS1):c.667T>C (p.Cys223Arg) rs104894929
NM_000330.4(RS1):c.673T>C (p.Ter225Arg) rs1057517433

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