ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter) rs863224850
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_003688.3(CASK):c.2303-2A>G rs863224854
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val) rs863224879

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