ClinVar Miner

List of variants in gene combination CDKL5, RS1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
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.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.326+1082T>C rs375809338 0.00013
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
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.184+3198C>T rs987192406 0.00006
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.522+5G>A rs200074383 0.00004
NM_000330.4(RS1):c.184+3194A>G rs587783162 0.00003
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00002
NM_000330.4(RS1):c.185-3147C>T rs376557374 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+3181C>T rs1183803130 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.185-3176C>T rs747799506 0.00001
NM_000330.4(RS1):c.185-3280G>A rs181859624 0.00001
NM_000330.4(RS1):c.326+1114C>T rs369383134 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 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.185-3114T>C rs1057523930
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.185-3281C>G rs148531754
NM_000330.4(RS1):c.326+1087G>A rs1057520263
NM_000330.4(RS1):c.326+1087G>C rs1057520263
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
NM_000330.4(RS1):c.543_544delinsAG (p.Asp181_Arg182delinsGluGly) rs1555957020

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