ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00008
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_000330.4(RS1):c.326+1115G>A rs951430019 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
NM_000330.4(RS1):c.185-3207G>A rs587783161 0.00002
NM_000330.4(RS1):c.184+3170G>A rs764540699 0.00001
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00001
NM_000330.4(RS1):c.184+3218A>C rs267608666 0.00001
NM_000330.4(RS1):c.185-3137C>A rs767312604 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.184+2978_184+2979delinsAT rs786204952
NM_000330.4(RS1):c.184+3094G>A rs267608394
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.185-3260C>T rs866859766

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