ClinVar Miner

List of variants in gene CUL4B studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_001079872.1(CUL4B):c.1396C>T
NM_003588.3(CUL4B):c.1005_1007TAT[1] (p.Ile337del) rs1556214312
NM_003588.3(CUL4B):c.1007_1011del (p.Ile336fs) rs1085307760
NM_003588.3(CUL4B):c.1160A>G (p.Gln387Arg) rs1556213268
NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) rs121434616
NM_003588.3(CUL4B):c.117A>T (p.Arg39Ser) rs757541076
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.1795+4_1795+7del rs1569389364
NM_003588.3(CUL4B):c.1906+1G>T rs797044862
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003588.3(CUL4B):c.193A>G (p.Ser65Gly)
NM_003588.3(CUL4B):c.2577G>C (p.Lys859Asn) rs1556181426
NM_003588.3(CUL4B):c.2687G>A (p.Arg896Gln) rs1556173896
NM_003588.3(CUL4B):c.2688G>A (p.Arg896=) rs143580749
NM_003588.3(CUL4B):c.348G>T (p.Gln116His) rs755306871
NM_003588.3(CUL4B):c.373C>G (p.Leu125Val) rs760294805
NM_003588.3(CUL4B):c.414_416CTC[5] (p.Ser146del) rs754330779
NM_003588.3(CUL4B):c.901-10del rs762094686
NM_003588.3(CUL4B):c.901-2A>G rs786200913
NM_003588.3(CUL4B):c.943G>A (p.Val315Ile)

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