ClinVar Miner

List of variants reported as benign for Roberts syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	rs201989984	0.00014
NM_001017420.3(ESCO2):c.1674-4T>C	rs750703352	0.00014
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)	rs557813179	0.00010

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