ClinVar Miner

List of variants reported as pathogenic for X-linked intellectual disability by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (156):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs) rs797045920

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