ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported by RettBASE

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
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.185-3134G>A rs202153551 0.00007
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
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.185-3207G>A rs587783161 0.00002
NM_000330.4(RS1):c.184+3218A>C rs267608666 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.184+3118C>G rs139155110
NM_000330.4(RS1):c.184+3199G>C rs36022183
NM_000330.4(RS1):c.326+1231G>A rs786204995
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2497-?_*85del

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