ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_000033.3(ABCD1):c.*208G>C rs193922092
NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs) rs193922093
NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.3(ABCD1):c.1780+4G>A rs193922095
NM_000033.3(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.3(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000108.3(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.4(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000202.5(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.7(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
NM_000284.3(PDHA1):c.1050_1133dup (p.Arg378_Gly379insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) rs1555935486
NM_000531.5(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.5(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.5(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) rs61752372
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1157_1197del41 (p.Leu386Hisfs) rs267608327
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.378-20C>G rs368684221
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
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.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) rs878853313
NM_004992.3(MECP2):c.710delG (p.Gly237Valfs) rs61749743
NM_004992.3(MECP2):c.753dupC (p.Gly252Argfs) rs61749751
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) rs61750240
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3:c.728_731delCCCA

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