ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs) rs193922093
NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000108.3(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
NM_000284.3(PDHA1):c.1050_1133dup (p.Arg378_Gly379insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) rs1555935486
NM_000531.5(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.5(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3:c.728_731delCCCA

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