ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics

Included ClinVar conditions (311):
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Total variants: 16
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HGVS dbSNP
NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa) rs1557134481
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer) rs1557135110
NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs) rs267608603
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.426del (p.Ala143fs) rs786205895
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.62+5395A>T rs786205892
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468

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