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 (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) rs1569548428
NM_001356.4(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_004429.5(EFNB1):c.453_454TG[4] (p.Arg154fs)
NM_004992.3(MECP2):c.378-3C>G rs267608465

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