ClinVar Miner

List of variants in gene combination MAF, WWOX 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: 5
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_79211588)_(79211816_?)del
NC_000016.9:g.(?_78133676)_(79633799_?)del
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter) rs770155582
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs) rs2051756247
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127

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