ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.185-3221G>C rs374054249 0.00004
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000330.4(RS1):c.184+3152G>A rs745370971 0.00002
NM_000330.4(RS1):c.184+3170G>A rs764540699 0.00001
NM_000330.4(RS1):c.184+3173C>T rs1018524335 0.00001
NM_000330.4(RS1):c.185-3090_185-3089insT rs1158418673 0.00001
NM_000330.4(RS1):c.185-3146G>A rs1398393336 0.00001
NM_000330.4(RS1):c.185-3170A>G rs781435432 0.00001
NM_000330.4(RS1):c.185-3222C>T rs760568446 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.326+1182C>T rs369009993 0.00001
NC_000023.10:g.(?_18442725)_(18672749_?)dup
NC_000023.10:g.(?_18525053)_(18665462_?)dup
NC_000023.10:g.(?_18525211)_(18671669_?)dup
NC_000023.10:g.(?_18668510)_(18668732_?)dup
NC_000023.10:g.(?_18671532)_(18671664_?)del
NC_000023.10:g.(?_18671532)_(18671664_?)dup
NC_000023.10:g.(?_18671542)_(18671664_?)del
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18653412)_(18653564_?)del
NM_000330.4(RS1):c.184+3136A>T rs1928138947
NM_000330.4(RS1):c.184+3161T>C
NM_000330.4(RS1):c.184+3176T>C rs2147201225
NM_000330.4(RS1):c.184+3203C>A
NM_000330.4(RS1):c.184+3221C>G rs2147201137
NM_000330.4(RS1):c.184+3231A>C rs1928132057
NM_000330.4(RS1):c.185-3087_185-3085del
NM_000330.4(RS1):c.185-3100G>T rs587783403
NM_000330.4(RS1):c.185-3110G>C rs200236257
NM_000330.4(RS1):c.185-3120G>A
NM_000330.4(RS1):c.185-3120G>T
NM_000330.4(RS1):c.185-3127del rs1927981164
NM_000330.4(RS1):c.185-3128G>A rs1927981327
NM_000330.4(RS1):c.185-3135C>T
NM_000330.4(RS1):c.185-3137C>T
NM_000330.4(RS1):c.185-3153A>T rs2147197777
NM_000330.4(RS1):c.185-3159C>T
NM_000330.4(RS1):c.185-3165G>A
NM_000330.4(RS1):c.185-3167G>C
NM_000330.4(RS1):c.185-3201A>G rs2147197846
NM_000330.4(RS1):c.185-3203A>T
NM_000330.4(RS1):c.185-3209T>C
NM_000330.4(RS1):c.185-3212G>A rs1927986563
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.185-3261C>T rs1927989790
NM_000330.4(RS1):c.326+1095C>A
NM_000330.4(RS1):c.326+1103del
NM_000330.4(RS1):c.326+1106del rs1927760301
NM_000330.4(RS1):c.326+1107G>A rs2147192703
NM_000330.4(RS1):c.326+1123C>T rs2147192682
NM_000330.4(RS1):c.326+1131_326+1132delinsTA rs2147192668
NM_000330.4(RS1):c.326+1142G>A
NM_000330.4(RS1):c.326+1155G>A
NM_000330.4(RS1):c.326+1159_326+1160del
NM_000330.4(RS1):c.326+1179C>T

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