ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance by GeneDx

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Total variants: 23
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150
NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782
NM_001323289.2(CDKL5):c.2277-4T>C rs1064794369
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671

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