ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) rs1555939456

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