ClinVar Miner

List of variants reported as pathogenic for Syndromic X-linked mental retardation, Cabezas type

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Total variants: 9
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NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
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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