ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3484C>A rs33958554 0.66040
NM_000330.4(RS1):c.185-150A>C rs6633107 0.09819
NM_000330.4(RS1):c.522+66A>C rs41309707 0.06999
NM_000330.4(RS1):c.330T>C (p.Cys110=) rs1801161 0.06874
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01920
NM_000330.4(RS1):c.523-10A>C rs142428831 0.00691
NM_000330.4(RS1):c.258G>A (p.Pro86=) rs147290350 0.00472
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.184+3208G>A rs150900695 0.00231
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_000330.4(RS1):c.576C>T (p.Pro192=) rs186334493 0.00025
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_000330.4(RS1):c.523-18T>C rs370113264 0.00021
NM_000330.4(RS1):c.285G>A (p.Ser95=) rs143920122 0.00018
NM_000330.4(RS1):c.326+1082T>C rs375809338 0.00013
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+1085G>A rs778757202 0.00007
NM_000330.4(RS1):c.185-3189C>T rs570887192 0.00006
NM_000330.4(RS1):c.326+1183G>A rs201714912 0.00006
NM_000330.4(RS1):c.326+14G>A rs370841048 0.00006
NM_000330.4(RS1):c.184+3143G>T rs757994307 0.00005
NM_000330.4(RS1):c.597C>A (p.Ile199=) rs200052722 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000330.4(RS1):c.184+3119G>A rs762576315 0.00002
NM_000330.4(RS1):c.185-3147C>T rs376557374 0.00002
NM_000330.4(RS1):c.185-3151T>C rs765535216 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.600C>T (p.Arg200=) rs771514400 0.00002
NM_000330.4(RS1):c.185-3137C>A rs767312604 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000330.4(RS1):c.185-3280G>A rs181859624 0.00001
GRCh37/hg19 Xp22.13(chrX:18662484-18662736)x2
NM_000330.4(RS1):c.*146del rs377648180
NM_000330.4(RS1):c.184+2977A>T rs34450419
NM_000330.4(RS1):c.184+2978T>C rs56396491
NM_000330.4(RS1):c.184+2978_184+2979delinsAT rs786204952
NM_000330.4(RS1):c.184+3240C>T
NM_000330.4(RS1):c.185-149_185-148del rs199718286
NM_000330.4(RS1):c.185-3110G>T
NM_000330.4(RS1):c.185-3147C>A
NM_000330.4(RS1):c.185-3260C>T rs866859766
NM_000330.4(RS1):c.185-3279G>A
NM_000330.4(RS1):c.185-3280G>C
NM_000330.4(RS1):c.185-3281C>G rs148531754
NM_000330.4(RS1):c.326+1197del
NM_000330.4(RS1):c.327-5G>A rs773769605

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