ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001330574.2(ZNF711):c.326G>C (p.Gly109Ala) rs769223012 0.00005
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) rs757074790 0.00002
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) rs1174582313
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) rs866395967
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_153252.5(BRWD3):c.3602+20C>G rs1602309498

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