ClinVar Miner

List of variants in gene CUL4B reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter) rs1924000101
NM_001079872.2(CUL4B):c.1444-1G>A
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys) rs1556200641
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln) rs1556173896
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=) rs2147321510

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