ClinVar Miner

List of variants in gene ARID1A reported as uncertain significance for ARID1A-related BAFopathy

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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: 2

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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.2630C>T (p.Pro877Leu)	rs2081008426

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