ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_004187.4(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725

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