List of variants in gene TBC1D2B reported as pathogenic for Neurodevelopmental disorder with seizures and gingival overgrowth

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_144572.2(TBC1D2B):c.1480C>T (p.Gln494Ter)	rs773764751
NM_144572.2(TBC1D2B):c.2295C>G (p.Tyr765Ter)	rs2141643586
NM_144572.2(TBC1D2B):c.2378T>A (p.Leu793Ter)	rs2141643269
NM_144572.2(TBC1D2B):c.426dup (p.Asn143Ter)	rs2141805160
NM_144572.2(TBC1D2B):c.658_659del (p.Leu220fs)	rs2141771878

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