ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg) rs2151185431
NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter) rs2151187172
NM_001320.7(CSNK2B):c.291+1G>T rs2151187350
NM_001320.7(CSNK2B):c.291+5G>C
NM_001320.7(CSNK2B):c.291G>A (p.Met97Ile) rs2151187334
NM_001320.7(CSNK2B):c.292-2A>G rs1802000298
NM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter) rs1802000840
NM_001320.7(CSNK2B):c.36G>A (p.Trp12Ter) rs1554169462
NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter)
NM_001320.7(CSNK2B):c.557+1G>C
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg) rs1802055133
NM_001320.7(CSNK2B):c.583_586dup (p.Ala196fs) rs2151189840
NM_001320.7(CSNK2B):c.592dup (p.Gln198fs)
NM_001320.7(CSNK2B):c.72+1G>A rs1801761541
NM_001320.7(CSNK2B):c.72+2T>G rs2151182244
NM_001320.7(CSNK2B):c.73-1G>A rs2151185341
NM_001320.7(CSNK2B):c.99dup (p.Phe34fs)

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