ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely benign for complex neurodevelopmental disorder

Included ClinVar conditions (295):
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
NM_000330.4(RS1):c.185-3093C>G 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_000330.4(RS1):c.184+3198C>T 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
NM_000330.4(RS1):c.185-3221G>C rs374054249 0.00004
NM_000330.4(RS1):c.326+1151T>C rs774743991 0.00004
NM_000330.4(RS1):c.184+3194A>G rs587783162 0.00003
NM_000330.4(RS1):c.184+3205C>T rs763292733 0.00003
NM_000330.4(RS1):c.184+3229G>T rs1247449149 0.00003
NM_000330.4(RS1):c.184+3119G>A rs762576315 0.00002
NM_000330.4(RS1):c.184+3151C>T rs910286513 0.00002
NM_000330.4(RS1):c.184+3160G>T rs587783163 0.00002
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00002
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000330.4(RS1):c.326+1130C>T rs1487927674 0.00002
NM_000330.4(RS1):c.184+3124T>C rs776601149 0.00001
NM_000330.4(RS1):c.184+3128G>T rs768289707 0.00001
NM_000330.4(RS1):c.185-3121C>T rs368344738 0.00001
NM_000330.4(RS1):c.185-3161G>C rs1064794669 0.00001
NM_000330.4(RS1):c.326+1114C>T rs369383134 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.326+1160T>C rs773644857 0.00001
NM_000330.4(RS1):c.326+1190T>C rs371658418 0.00001
NM_000330.4(RS1):c.184+3117C>T
NM_000330.4(RS1):c.184+3145C>G
NM_000330.4(RS1):c.184+3151C>G
NM_000330.4(RS1):c.184+3158_184+3167del rs1363899499
NM_000330.4(RS1):c.184+3201G>C rs376960593
NM_000330.4(RS1):c.184+3232C>G
NM_000330.4(RS1):c.185-3058C>A rs980932278
NM_000330.4(RS1):c.185-3074G>A
NM_000330.4(RS1):c.185-3103T>C
NM_000330.4(RS1):c.185-3124G>A rs1602315522
NM_000330.4(RS1):c.185-3125C>T
NM_000330.4(RS1):c.185-3129G>A rs2147197730
NM_000330.4(RS1):c.185-3157G>A
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.326+1084C>T rs1927762103
NM_000330.4(RS1):c.326+1093_326+1094del rs1555957573
NM_000330.4(RS1):c.326+1105T>C
NM_000330.4(RS1):c.326+1193T>C

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