ClinVar Miner

List of variants studied for Roberts syndrome by Natera, Inc.

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Total variants: 23
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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 0.00019
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.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001017420.3(ESCO2):c.393C>T (p.Val131=) rs552661510 0.00005
NM_001017420.3(ESCO2):c.1674-9_1674-7del rs778526413 0.00003
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=) rs146523589 0.00003
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=) rs1451610987 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 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.1013+1G>A rs1225195349
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=) rs554005632
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.405G>A (p.Lys135=) rs767762209
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=) rs780741900
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=) rs372611248
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857

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