ClinVar Miner

List of variants reported as likely pathogenic for ARID1B-related BAFopathy

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.1651C>A (p.Gln551Lys)	rs1583027141
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)	rs1057518045
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)	rs1057518648

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