ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr)
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) rs1307587368
NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)
NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val) rs765477668

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