ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely benign for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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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
NC_000023.11:g.18650425G>C rs1418563117 0.00009
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_003159.3(CDKL5):c.3004G>A (p.Val1002Ile) rs987192406 0.00006
NM_000330.4(RS1):c.184+3143G>T rs757994307 0.00005
NM_000330.4(RS1):c.326+1115G>A rs951430019 0.00005
NC_000023.11:g.18646040A>G rs774743991 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NC_000023.11:g.18653424C>A rs1247449149 0.00003
NC_000023.11:g.18653448G>A rs763292733 0.00003
NM_003159.3(CDKL5):c.3008T>C (p.Met1003Thr) rs587783162 0.00003
NC_000023.11:g.18646061G>A rs1487927674 0.00002
NC_000023.11:g.18653493C>A rs587783163 0.00002
NC_000023.11:g.18653502G>A rs910286513 0.00002
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.185-3188G>A rs267608665 0.00002
NM_003159.3(CDKL5):c.3012G>T (p.Arg1004Ser) rs267608667 0.00002
NC_000023.11:g.18646001A>G rs371658418 0.00001
NC_000023.11:g.18646031A>G rs773644857 0.00001
NC_000023.11:g.18650453G>A rs368344738 0.00001
NC_000023.11:g.18653525C>A rs768289707 0.00001
NC_000023.11:g.18653529A>G rs776601149 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_003159.3(CDKL5):c.2784G>A (p.Thr928=) rs369383134 0.00001
NM_003159.3(CDKL5):c.2881C>G (p.Pro961Ala) rs1064794669 0.00001
NC_000023.11:g.18645998A>G
NC_000023.11:g.18646086A>G
NC_000023.11:g.18646107G>A rs1927762103
NC_000023.11:g.18650390G>T rs980932278
NC_000023.11:g.18650406C>T
NC_000023.11:g.18650435A>G
NC_000023.11:g.18650457G>A
NC_000023.11:g.18650461C>T rs2147197730
NC_000023.11:g.18650489C>T
NC_000023.11:g.18653421G>C
NC_000023.11:g.18653452C>G rs376960593
NC_000023.11:g.18653502G>C
NC_000023.11:g.18653508G>C
NC_000023.11:g.18653536G>A
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_003159.3(CDKL5):c.2797+8_2797+9del rs1555957573
NM_003159.3(CDKL5):c.2844C>T (p.Cys948=) rs1602315522
NM_003159.3(CDKL5):c.3037_3046del (p.Val1013fs) rs1363899499

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