ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely pathogenic for X-linked retinoschisis

Included ClinVar conditions (2):
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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
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.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_000330.4(RS1):c.187T>C (p.Cys63Arg) rs2147194234
NM_000330.4(RS1):c.209G>A (p.Gly70Asp) rs62645895
NM_000330.4(RS1):c.215A>G (p.Glu72Gly) rs1927823799
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.327-14_410del rs2147191292
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.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.455del (p.Ser152fs)
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.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.579dup (p.Ile194fs) rs199469697
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.649del (p.Leu217fs) rs1927598075
NM_000330.4(RS1):c.673T>C (p.Ter225Arg) rs1057517433

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