ClinVar Miner

List of variants reported as pathogenic for Inflammatory skin and bowel disease, neonatal, 2 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter)	rs1794575659	0.00001
NM_005228.5(EGFR):c.1094T>A (p.Ile365Asn)
NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp)	rs606231253

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