ClinVar Miner

List of variants reported as uncertain significance for X-linked intellectual disability, Cabezas type by Invitae

Included ClinVar conditions (1):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr) rs757649304 0.00002
NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser) rs757541076 0.00002
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln) rs750866615 0.00001
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His) rs755306871 0.00001
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile) rs367660624 0.00001
NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg) rs1556213268
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)
NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn) rs2147329944
NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys) rs2147350219
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His) rs1923849803
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)
NM_001079872.2(CUL4B):c.1853-13A>G
NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe)
NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn)
NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu)
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)
NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)
NM_001079872.2(CUL4B):c.2592+3A>T
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs) rs2147314730
NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu)
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del) rs754330779
NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup) rs746690704
NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del)
NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro)
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg) rs1199433297
NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe)
NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser)
NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe)
NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)
NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del) rs1556214312
NM_003588.4(CUL4B):c.46G>C (p.Ala16Pro)
NM_003588.4(CUL4B):c.5T>C (p.Met2Thr)

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