ClinVar Miner

List of variants reported as pathogenic for Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16; Otosclerosis 12

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)

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