ClinVar Miner

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

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) rs1569288603
NM_004187.4(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725
NM_015185.3(ARHGEF9):c.311G>A (p.Arg104Gln) rs1556401714

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