ClinVar Miner

List of variants studied for Non-syndromic X-linked intellectual disability by Illumina Laboratory Services, Illumina

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001039891.2(ZNF674):c.*2120A>C rs5952893 0.26563
NM_001190417.2(ZNF674):c.*1120_*1121del rs1491247337 0.24741
NM_001330574.2(ZNF711):c.*632A>G rs6653049 0.22070
NM_024921.4(POF1B):c.*1626G>A rs16980188 0.22046
NM_024921.4(POF1B):c.*1431A>C rs16980189 0.22033
NM_024921.4(POF1B):c.*1849G>A rs73513629 0.08686
NM_024921.4(POF1B):c.*1173C>A rs7062790 0.01314
NM_024921.4(POF1B):c.*1808A>G rs56307558 0.00517
NM_001330574.2(ZNF711):c.*1411G>A rs779890560 0.00296
NM_001330574.2(ZNF711):c.*1260G>A rs73234669 0.00178
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile) rs75329154 0.00146
NM_004840.3(ARHGEF6):c.*131_*134del rs775186031 0.00080
NM_004840.2(ARHGEF6):c.-222T>A rs968152666 0.00002
NM_007137.5(ZNF81):c.*2171_*2172del rs1057515913 0.00001
NM_001324144.2(ZNF41):c.-280+483GCACGC[3] rs200168272
NM_001324144.2(ZNF41):c.-280+494_-280+495insCGCGCACGCG rs372112867
NM_001330574.2(ZNF711):c.-439dup rs1057516012
NM_001330574.2(ZNF711):c.-449delinsGGCGGCGGCG rs1057516011
NM_001330574.2(ZNF711):c.-473GGC[10] rs758475553
NM_001330574.2(ZNF711):c.-473GGC[9] rs758475553
NM_002578.5(PAK3):c.*452del rs1057515732
NM_002578.5(PAK3):c.*515del
NM_002578.5(PAK3):c.601-3dup rs768803846
NM_004840.2(ARHGEF6):c.-93_-92delAT rs757215282
NM_004840.3(ARHGEF6):c.*109TC[6] rs1057515778
NM_004840.3(ARHGEF6):c.*1817dup rs751450350
NM_004840.3(ARHGEF6):c.*197GTT[1] rs770569536
NM_007137.5(ZNF81):c.*176del rs781900721
NM_007137.5(ZNF81):c.*2268del rs1057515914
NM_007137.5(ZNF81):c.*3399T>A rs1057515915
NM_014271.4(IL1RAPL1):c.-302del rs779869307
NM_014271.4(IL1RAPL1):c.-302dup rs779869307
NM_014271.4(IL1RAPL1):c.-303_-302del rs779869307
NM_014271.4(IL1RAPL1):c.83-8dup rs773751585
NM_153252.5(BRWD3):c.*244CA[2] rs1057516004
NM_153252.5(BRWD3):c.*265AC[4] rs35220611
NM_153252.5(BRWD3):c.*6025dup rs201004001
NM_153252.5(BRWD3):c.-229_-228dup rs1057516006
NM_153252.5(BRWD3):c.-239TC[6] rs545281823
NM_153252.5(BRWD3):c.-265TC[7] rs1057516007
NM_153252.5(BRWD3):c.-283CT[8] rs199953219
NM_153252.5(BRWD3):c.3326-14del rs765175433
NM_153252.5(BRWD3):c.3326-26dup rs765175433
NM_171998.4(RAB39B):c.*139_*142del rs1057515834
NM_171998.4(RAB39B):c.*1621del rs1057515830
NM_171998.4(RAB39B):c.*1949CAAA[1] rs1057515828
NM_171998.4(RAB39B):c.*659_*660insATA rs1057515832

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