List of variants 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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