ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_004992.3(MECP2):c.1098_1100CCA[2] (p.His372del) rs61752381
NM_004992.3(MECP2):c.1148T>C (p.Leu383Pro) rs1060499622
NM_004992.3(MECP2):c.1155_1208del (p.Leu386_Pro403del) rs1557135259
NM_004992.3(MECP2):c.1156_1197del (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492

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