ClinVar Miner

List of variants in gene CRBN studied for Intellectual disability, autosomal recessive 2

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016302.4(CRBN):c.750+32A>G rs1705789 0.91660
NM_016302.4(CRBN):c.175-9T>C rs1669321 0.89132
NM_016302.4(CRBN):c.735T>C (p.Tyr245=) rs17027638 0.07348
NM_016302.4(CRBN):c.724C>T (p.Arg242Cys) rs541404259 0.00003
NM_016302.4(CRBN):c.433C>T (p.Arg145Ter) rs1302797003 0.00001
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys) rs1397046310 0.00001
NM_016302.4(CRBN):c.129dup (p.Pro44fs) rs1707782133
NM_016302.4(CRBN):c.29C>G (p.Ala10Gly) rs137880766
NM_016302.4(CRBN):c.40A>T (p.Met14Leu) rs753095651
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter) rs1575094649
NM_016302.4(CRBN):c.835+1G>A rs1226252969

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