ClinVar Miner

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

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_003588.3(CUL4B):c.1007_1011del (p.Ile336fs) rs1085307760
NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) rs121434616
NM_003588.3(CUL4B):c.1458_1459del (p.Val487fs) rs1556206910
NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) rs869320682
NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) rs121434615
NM_003588.3(CUL4B):c.1736_1737del (p.Thr579fs) rs1057519396
NM_003588.3(CUL4B):c.1906+1G>T rs797044862
NM_003588.3(CUL4B):c.901-2A>G rs786200913

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