ClinVar Miner

List of variants studied for CDKL5 disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) rs1926261579
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs) rs2147160726
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs) rs1926298368
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.2047-2A>C rs1926471092
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter) rs1927139054
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly) rs1925574557
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.601del (p.Glu203fs) rs1925697105
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg) rs1922607139
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter) rs1925701271
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)

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