ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as uncertain significance for not provided

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Total variants: 78
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HGVS dbSNP gnomAD frequency
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.264G>C (p.Gln88His) rs201680258 0.00021
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000330.4(RS1):c.661A>G (p.Ser221Gly) rs1339570385 0.00004
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.184+3119G>A rs762576315 0.00002
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
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.539C>T (p.Ser180Leu) rs760857618 0.00002
NM_000330.4(RS1):c.196C>G (p.His66Asp) rs1244059097 0.00001
NM_000330.4(RS1):c.289A>C (p.Thr97Pro) rs746374375 0.00001
NM_000330.4(RS1):c.450G>C (p.Lys150Asn) rs1342574819 0.00001
NM_000330.4(RS1):c.479G>A (p.Arg160His) rs758816133 0.00001
NM_000330.4(RS1):c.572G>A (p.Arg191Gln) rs1402116265 0.00001
NM_003159.3(CDKL5):c.2797+12G>T rs886042724 0.00001
NM_003159.3(CDKL5):c.2798-24C>T rs1294833087 0.00001
NM_003159.3(CDKL5):c.2866C>T (p.Arg956Cys) rs1398393336 0.00001
NM_003159.3(CDKL5):c.2881C>G (p.Pro961Ala) rs1064794669 0.00001
NC_000023.10:g.(?_18660124)_(18660296_?)dup
NM_000330.4(RS1):c.184+3146A>T
NM_000330.4(RS1):c.184+3219A>T
NM_000330.4(RS1):c.185-3C>T
NM_000330.4(RS1):c.187T>C (p.Cys63Arg) rs2147194234
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.4(RS1):c.233C>T (p.Pro78Leu)
NM_000330.4(RS1):c.247T>C (p.Cys83Arg) rs1927820779
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.268G>C (p.Val90Leu)
NM_000330.4(RS1):c.272G>C (p.Gly91Ala) rs373612815
NM_000330.4(RS1):c.278_280del (p.Tyr93del)
NM_000330.4(RS1):c.279TTC[1] (p.Ser95del)
NM_000330.4(RS1):c.308T>G (p.Leu103Arg) rs61752069
NM_000330.4(RS1):c.326+4A>C
NM_000330.4(RS1):c.327-9_327-4del rs2147191437
NM_000330.4(RS1):c.330_331inv (p.Ala111Thr)
NM_000330.4(RS1):c.345G>C (p.Lys115Asn)
NM_000330.4(RS1):c.364T>C (p.Trp122Arg) rs2147191370
NM_000330.4(RS1):c.374T>C (p.Ile125Thr) rs199469695
NM_000330.4(RS1):c.374T>G (p.Ile125Arg) rs199469695
NM_000330.4(RS1):c.376G>C (p.Asp126His) rs199469698
NM_000330.4(RS1):c.376G>T (p.Asp126Tyr)
NM_000330.4(RS1):c.379C>A (p.Leu127Met) rs1927703033
NM_000330.4(RS1):c.385_387del (p.Glu129del) rs1927702371
NM_000330.4(RS1):c.387_434dup (p.Ile144_Asp145insGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIle) rs199469699
NM_000330.4(RS1):c.389T>A (p.Ile130Asn)
NM_000330.4(RS1):c.409C>T (p.Leu137Phe) rs1927700931
NM_000330.4(RS1):c.424T>G (p.Cys142Gly)
NM_000330.4(RS1):c.439T>C (p.Trp147Arg) rs2147191229
NM_000330.4(RS1):c.457G>A (p.Val153Met)
NM_000330.4(RS1):c.467G>A (p.Arg156Lys) rs2147191184
NM_000330.4(RS1):c.475G>A (p.Glu159Lys)
NM_000330.4(RS1):c.477G>C (p.Glu159Asp) rs2147191161
NM_000330.4(RS1):c.479G>T (p.Arg160Leu)
NM_000330.4(RS1):c.503A>C (p.Asp168Ala)
NM_000330.4(RS1):c.520C>T (p.Arg174Trp)
NM_000330.4(RS1):c.550T>C (p.Ser184Pro)
NM_000330.4(RS1):c.562A>G (p.Asn188Asp) rs2147189068
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.580ATC[3] (p.Ile195_Ser196insIle) rs199469701
NM_000330.4(RS1):c.621C>A (p.His207Gln)
NM_000330.4(RS1):c.629T>G (p.Ile210Ser)
NM_000330.4(RS1):c.654G>C (p.Glu218Asp) rs2147188867
NM_000330.4(RS1):c.658G>A (p.Val220Ile)
NM_000330.4(RS1):c.663dup (p.Lys222fs) rs199469700
NM_001037343.2(CDKL5):c.3063C>G (p.Tyr1021Ter) rs779791138
NM_003159.2(CDKL5):c.2798_2800delGAG rs1085307780
NM_003159.3(CDKL5):c.2741_2742del (p.Arg914fs)
NM_003159.3(CDKL5):c.2749T>G (p.Ser917Ala) rs2147192642
NM_003159.3(CDKL5):c.2797+10G>C rs1569229724
NM_003159.3(CDKL5):c.2822del (p.Pro941fs) rs1158352360
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.3017C>T (p.Ala1006Val) rs573588032
NM_003159.3(CDKL5):c.3034C>T (p.Gln1012Ter)
NM_003159.3(CDKL5):c.3074C>T (p.Ala1025Val) rs768289707

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