ClinVar Miner

List of variants in gene CDKL5, RS1 studied for Retinal dystrophy

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Total variants: 24
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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.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.266dup (p.Tyr89Ter) rs1927819239
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.316C>T (p.Gln106Ter) rs1386256334
NM_000330.4(RS1):c.318dup (p.Gly107fs) rs61752071
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.375_379del (p.Asp126fs) rs1927703176
NM_000330.4(RS1):c.386A>T (p.Glu129Val) rs1927702542
NM_000330.4(RS1):c.460C>T (p.Gln154Ter) rs61753164
NM_000330.4(RS1):c.472G>A (p.Asp158Asn) rs1800002
NM_000330.4(RS1):c.522+1G>A rs281865348
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
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.596T>C (p.Ile199Thr) rs281865356
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.647T>C (p.Leu216Pro) rs281865368
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369

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