ClinVar Miner

List of variants reported as likely pathogenic for West syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) rs2105837590
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) rs764822052
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385

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