ClinVar Miner

List of variants studied for West syndrome by Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3:c.(?_1225)_(1572_?)del

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