List of variants reported as pathogenic for ARID1A-related BAFopathy by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter)	rs1557591264
NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter)	rs2124740536
NM_006015.6(ARID1A):c.1708_1766del (p.Pro570fs)	rs2124789902
NM_006015.6(ARID1A):c.2914del (p.Asp972fs)	rs2124081540
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)	rs1557620758

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