List of variants reported as likely benign for Roberts syndrome by Natera, Inc.

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.1013+7A>G	rs149494070	0.00074
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg)	rs143828675	0.00023
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)	rs199653554	0.00011
NM_001017420.3(ESCO2):c.393C>T (p.Val131=)	rs552661510	0.00006
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=)	rs146523589	0.00002
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=)	rs554005632	0.00001
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=)	rs1451610987	0.00001
NM_001017420.3(ESCO2):c.1674-9_1674-7del	rs778526413	0.00001
NM_001017420.3(ESCO2):c.603A>G (p.Pro201=)	rs774506097	0.00001
NM_001017420.3(ESCO2):c.666G>A (p.Ser222=)	rs201608468	0.00001
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=)	rs767762209
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=)	rs780741900
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=)	rs372611248

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