ClinVar Miner

List of variants in gene CSNK2B reported as pathogenic for Poirier-Bienvenu neurodevelopmental syndrome

Included ClinVar conditions (2):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001320.7(CSNK2B):c.108dup (p.Thr37fs) rs1131692161
NM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter)
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001320.7(CSNK2B):c.175+2T>G rs1583605716
NM_001320.7(CSNK2B):c.292-2A>C rs1802000298
NM_001320.7(CSNK2B):c.292-2A>G rs1802000298
NM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter) rs1802001080
NM_001320.7(CSNK2B):c.310G>T (p.Gly104Ter)
NM_001320.7(CSNK2B):c.332G>C (p.Arg111Pro) rs2151188333
NM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter) rs2151188371
NM_001320.7(CSNK2B):c.367+1G>A rs2151188416
NM_001320.7(CSNK2B):c.367+2T>C rs1583610610
NM_001320.7(CSNK2B):c.367+5del rs1583610622
NM_001320.7(CSNK2B):c.368-2A>G rs1583611290
NM_001320.7(CSNK2B):c.374C>G (p.Ser125Ter) rs2151188756
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) rs2151188873
NM_001320.7(CSNK2B):c.472del (p.Tyr158fs) rs2151188896
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) rs1802026476
NM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs) rs1583611843
NM_001320.7(CSNK2B):c.560T>C (p.Leu187Pro) rs1802055133
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg) rs1802055133
NM_001320.7(CSNK2B):c.621dup (p.Lys208fs) rs1583613268
NM_001320.7(CSNK2B):c.91C>T (p.Gln31Ter) rs2151185359
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
NM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr) rs1554169984
NM_001320.7(CSNK2B):c.95A>C (p.Asp32Ala)

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