ClinVar Miner

List of variants in gene CUL7 reported as likely pathogenic by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_014780.5(CUL7):c.263del (p.Val88fs) rs786205651
NM_014780.5(CUL7):c.4529G>T (p.Gly1510Val) rs786205581

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