ClinVar Miner

List of variants reported as pathogenic for Encephalopathy; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	rs1555755242

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