ClinVar Miner

List of variants reported as uncertain significance for Poirier-Bienvenu neurodevelopmental syndrome

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001320.7(CSNK2B):c.265del (p.Thr90fs) rs1583608557
NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg)
NM_001320.7(CSNK2B):c.367+6T>C rs2151188436
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) rs2151188873
NM_001320.7(CSNK2B):c.467_468delinsTT (p.Gly156Val) rs2151188878
NM_001320.7(CSNK2B):c.491C>G (p.Pro164Arg) rs2151188947
NM_001320.7(CSNK2B):c.501C>T (p.Leu167=)
NM_001320.7(CSNK2B):c.554_555dup (p.Arg186fs) rs1802030746
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser)
NM_001320.7(CSNK2B):c.581C>T (p.Pro194Leu)

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