List of variants reported as likely benign for Roberts-SC phocomelia syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)	rs57479434	0.00323
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)	rs73568217	0.00321
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys)	rs144288263	0.00277
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)	rs141631911	0.00262
NM_001017420.3(ESCO2):c.*96C>T	rs118103454	0.00039
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)	rs149917909	0.00036
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	rs201989984	0.00014
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)	rs750159862	0.00004
NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile)	rs897825817	0.00001
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)	rs535236969	0.00001
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln)	rs767444182	0.00001
NM_001017420.3(ESCO2):c.*397A>G	rs529251667
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=)	rs1585413228
NM_001017420.3(ESCO2):c.861+1G>A	rs1804814100

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