ClinVar Miner

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

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) rs61752372
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) rs878853313
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) rs1569548428
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001356.4(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_004429.5(EFNB1):c.453_454TG[4] (p.Arg154fs)
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

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