List of variants studied for ARID1A-related BAFopathy by Baylor Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys)	rs1466882490	0.00001
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.2630C>T (p.Pro877Leu)	rs2081008426
NM_006015.6(ARID1A):c.2914del (p.Asp972fs)	rs2124081540
NM_006015.6(ARID1A):c.3146T>G (p.Leu1049Arg)	rs2124087389
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)	rs1570609440
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)	rs1557620758
NM_006015.6(ARID1A):c.6490C>T (p.Arg2164Trp)	rs2124149645

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