ClinVar Miner

List of variants reported as uncertain significance for Non-syndromic X-linked intellectual disability

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001190417.2(ZNF674):c.*1120_*1121del rs1491247337 0.24741
NM_001318510.2(ACSL4):c.1698-10G>A rs193072191 0.00585
NM_001318510.2(ACSL4):c.1391-7T>C rs192665139 0.00373
NM_004840.2(ARHGEF6):c.-222T>A rs968152666 0.00002
NM_007137.5(ZNF81):c.*2171_*2172del rs1057515913 0.00001
NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly) rs797044641 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_002578.5(PAK3):c.*452del rs1057515732
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_007137.5(ZNF81):c.*176del rs781900721
NM_007137.5(ZNF81):c.*2268del rs1057515914
NM_007137.5(ZNF81):c.*3399T>A rs1057515915
NM_007137.5(ZNF81):c.1897A>T (p.Thr633Ser)
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.-229_-228dup rs1057516006
NM_153252.5(BRWD3):c.-265TC[7] rs1057516007
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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