ClinVar Miner

List of variants in gene CDKL5 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484 0.44413
NM_001323289.2(CDKL5):c.1944+93_1944+94insT rs199988024 0.05052
NM_001323289.2(CDKL5):c.404-105T>G rs73636684 0.04522
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001323289.2(CDKL5):c.-163+16465A>G rs2283722 0.02524
NM_001323289.2(CDKL5):c.100-144A>G rs147529625 0.02301
NM_001323289.2(CDKL5):c.464-298A>T rs149852919 0.01636
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_001323289.2(CDKL5):c.2046+12del rs766762463 0.00076
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442 0.00024
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_001323289.2(CDKL5):c.2276+12G>C rs372909446 0.00020
NM_001323289.2(CDKL5):c.603T>C (p.Leu201=) rs763478005 0.00006
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.-162-103C>G rs2147091932
NM_001323289.2(CDKL5):c.-163+16773TTTTG[10] rs60114040
NM_001323289.2(CDKL5):c.-163+16773TTTTG[8] rs60114040
NM_001323289.2(CDKL5):c.-163+19A>C rs937436369
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[6] rs745969938
NM_001323289.2(CDKL5):c.1944+247dup rs372238701
NM_001323289.2(CDKL5):c.2153-38dup rs368997720
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.64+305dup rs200439467

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