ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as pathogenic for West syndrome

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NC_000023.10:g.(?_18582587)_(18690188_?)del
NC_000023.11:g.(?_18506933)_(18653564_?)del
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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