ClinVar Miner

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

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_001184880.1(PCDH19):c.457_458delGCinsAT (p.Ala153Ile) rs863224907
NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_017745.5(BCOR):c.4009C>T (p.Gln1337Ter) rs863224850
NM_031407.6(HUWE1):c.4013C>T (p.Ala1338Val) rs863224879

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