ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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_001356.5(DDX3X):c.1171-2A>C rs2147356545
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274

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