ClinVar Miner

List of variants in gene ESCO2 reported as pathogenic for Roberts syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 0.00001
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) rs750842366
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857

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