List of variants reported as likely pathogenic for CDC42BPB-related neurodevelopmental syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006035.4(CDC42BPB):c.424G>A (p.Ala142Thr)	rs1198710710	0.00001
NM_006035.4(CDC42BPB):c.1630dup (p.Glu544fs)	rs1595482918
NM_006035.4(CDC42BPB):c.2290C>T (p.Arg764Ter)	rs1595476797
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys)	rs1595472764
NM_006035.4(CDC42BPB):c.2612T>C (p.Leu871Pro)	rs1595472756
NM_006035.4(CDC42BPB):c.2626C>T (p.Arg876Trp)	rs1595472741
NM_006035.4(CDC42BPB):c.2627G>C (p.Arg876Pro)	rs1595472739
NM_006035.4(CDC42BPB):c.37_50del (p.Leu13fs)	rs1595208914
NM_006035.4(CDC42BPB):c.3896G>A (p.Arg1299Gln)	rs1595450393
NM_006035.4(CDC42BPB):c.4049G>C (p.Arg1350Pro)	rs1595450125
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr)	rs1595127294
NM_006035.4(CDC42BPB):c.879C>G (p.Ile293Met)	rs1016320330

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