ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val) rs863224879

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