ClinVar Miner

List of variants in gene DLD studied for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_000108.3(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.3(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.3(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.3(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.4(DLD):c.*1088A>G rs886061912
NM_000108.4(DLD):c.*1092C>T rs546777301
NM_000108.4(DLD):c.*1307C>T rs568807016
NM_000108.4(DLD):c.*1451T>C rs2108223
NM_000108.4(DLD):c.*167T>C rs886061909
NM_000108.4(DLD):c.*1688G>A rs8440
NM_000108.4(DLD):c.*1724C>G rs886061913
NM_000108.4(DLD):c.*1736T>C rs190655078
NM_000108.4(DLD):c.*1791_*1794delTTTA rs760145994
NM_000108.4(DLD):c.*1857A>C rs774099916
NM_000108.4(DLD):c.*1877A>G rs182010485
NM_000108.4(DLD):c.*18A>T rs8721
NM_000108.4(DLD):c.*207G>A rs4564
NM_000108.4(DLD):c.*225C>T rs553824101
NM_000108.4(DLD):c.*28G>T rs17154615
NM_000108.4(DLD):c.*355A>G rs886061910
NM_000108.4(DLD):c.*470G>A rs111619940
NM_000108.4(DLD):c.*487C>T rs4518
NM_000108.4(DLD):c.*498T>G rs886061911
NM_000108.4(DLD):c.*648G>A rs57801571
NM_000108.4(DLD):c.*855C>T rs116055514
NM_000108.4(DLD):c.*947G>T rs7777259
NM_000108.4(DLD):c.*978T>C rs2158835
NM_000108.4(DLD):c.-8G>T rs372155330
NM_000108.4(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.4(DLD):c.104dupA (p.Tyr35Terfs) rs753234219
NM_000108.4(DLD):c.105del (p.Tyr35Terfs) rs1554396895
NM_000108.4(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.4(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.4(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.4(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.4(DLD):c.118+1G>T rs1554396908
NM_000108.4(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.4(DLD):c.1236+1G>T rs1554400483
NM_000108.4(DLD):c.12G>A (p.Trp4Ter)
NM_000108.4(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.4(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.4(DLD):c.1421del (p.Gly474Glufs) rs1554400699
NM_000108.4(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.4(DLD):c.1429_1432del (p.Cys477Lysfs) rs1554400704
NM_000108.4(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.4(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.4(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.4(DLD):c.1446_1447del (p.Arg482Serfs) rs1554400713
NM_000108.4(DLD):c.1463C>T (p.Pro488Leu) rs121964988
NM_000108.4(DLD):c.1463del (p.Pro488Argfs) rs1554400720
NM_000108.4(DLD):c.1465-7C>G rs886061908
NM_000108.4(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.4(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.4(DLD):c.1520_1523delTCAA (p.Ile507Thrfs) rs777884525
NM_000108.4(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.4(DLD):c.198+1G>A rs1554398193
NM_000108.4(DLD):c.199-1G>A rs1554398264
NM_000108.4(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.4(DLD):c.223dupA (p.Thr75Asnfs) rs1057517214
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.267+15delT rs886061906
NM_000108.4(DLD):c.268-2A>G rs1554398461
NM_000108.4(DLD):c.338-2_338-1delAGinsT rs1554398624
NM_000108.4(DLD):c.345del (p.Val116Phefs) rs1554398625
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.39+1G>A rs111257462
NM_000108.4(DLD):c.439-6G>C rs369208046
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.55C>G (p.Arg19Gly)
NM_000108.4(DLD):c.633dupA (p.Val212Serfs) rs1040811473
NM_000108.4(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.4(DLD):c.684+7G>A rs75123588
NM_000108.4(DLD):c.685-14T>A rs80111449
NM_000108.4(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.4(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.4(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000108.4(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.4(DLD):c.82delT (p.Ser28Leufs) rs764704217
NM_000108.4(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000108.4(DLD):c.865dup (p.Ile289Asnfs) rs1554400179
NM_000108.5(DLD):c.875+1G>A

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