ClinVar Miner

List of variants reported as uncertain significance for Syndromic X-linked mental retardation, Cabezas type by Invitae

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Total variants: 9
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HGVS dbSNP
NM_001079872.1(CUL4B):c.951_953TAT[1] (p.Ile319del) rs1556214312
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)
NM_003588.3(CUL4B):c.1160A>G (p.Gln387Arg) rs1556213268
NM_003588.3(CUL4B):c.117A>T (p.Arg39Ser) rs757541076
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.423_431del rs754330779
NM_003588.3(CUL4B):c.943G>A (p.Val315Ile) rs367660624

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