ClinVar Miner

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

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NC_000023.11:g.154030108_154030672del565 rs1557134621
NM_001110792.1(MECP2):c.772_779delATGGTGATinsGTG (p.Met258Valfs) rs267608520
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.1024_1025insAG (p.Pro342Glnfs) rs1060499620
NM_004992.3(MECP2):c.1029delG (p.Arg344Glyfs) rs61751457
NM_004992.3(MECP2):c.1089_1129del41 (p.Lys364Glyfs) rs1064792898
NM_004992.3(MECP2):c.1094_1138del45 (p.Glu365_Pro379del) rs1064792899
NM_004992.3(MECP2):c.1104_1106delCCA (p.His372del) rs61752381
NM_004992.3(MECP2):c.1148T>C (p.Leu383Pro) rs1060499622
NM_004992.3(MECP2):c.1155_1208del54 (p.Leu386_Pro403del) rs1557135259
NM_004992.3(MECP2):c.1156_1197del42 (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.1157_1197del41 (p.Leu386Hisfs) rs267608327
NM_004992.3(MECP2):c.1168_1173delCCACCT (p.Pro390_Pro391del) rs61753008
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.1180_1205del26 (p.Glu394Profs) rs267608333
NM_004992.3(MECP2):c.203C>G (p.Ser68Ter) rs267608438
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.468C>A (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.678delT (p.Gln227Lysfs) rs1060499621
NM_004992.3(MECP2):c.710dupG (p.Gly238Trpfs) rs61749743
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) rs782086416
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443

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