ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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.6490C>T (p.Arg2164Trp)	rs2124149645

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