ClinVar Miner

List of variants in gene ESCO2 reported as likely pathogenic for Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.1354-18G>A rs80359865 0.00001
NM_001017420.3(ESCO2):c.1006del (p.Ser336fs)
NM_001017420.3(ESCO2):c.118_119del (p.Asn39_Ser40insTer) rs1804790650
NM_001017420.3(ESCO2):c.128del (p.Asn43fs)
NM_001017420.3(ESCO2):c.1353+1G>T rs959080745
NM_001017420.3(ESCO2):c.1427_1431del (p.Ile476fs)
NM_001017420.3(ESCO2):c.1432del (p.Thr478fs) rs1262117826
NM_001017420.3(ESCO2):c.1436_1437del (p.Phe479fs)
NM_001017420.3(ESCO2):c.1443del (p.Phe481fs)
NM_001017420.3(ESCO2):c.1475dup (p.Leu492fs) rs1413591962
NM_001017420.3(ESCO2):c.1622del (p.Phe541fs) rs1208433027
NM_001017420.3(ESCO2):c.184_185insG (p.Thr62fs)
NM_001017420.3(ESCO2):c.196_199del (p.Asn66fs) rs1368322558
NM_001017420.3(ESCO2):c.199dup (p.Arg67fs)
NM_001017420.3(ESCO2):c.1A>G (p.Met1Val)
NM_001017420.3(ESCO2):c.22_23insT (p.Lys8fs)
NM_001017420.3(ESCO2):c.313_314del (p.Glu104_Ser105insTer) rs2128951110
NM_001017420.3(ESCO2):c.491dup (p.Asn164fs) rs2128951191
NM_001017420.3(ESCO2):c.636dup (p.Val213fs) rs2486628509
NM_001017420.3(ESCO2):c.665C>A (p.Ser222Ter)
NM_001017420.3(ESCO2):c.715_716del (p.Glu239fs)
NM_001017420.3(ESCO2):c.744del (p.Val249fs)
NM_001017420.3(ESCO2):c.76_77del (p.Leu26fs) rs768055962
NM_001017420.3(ESCO2):c.861+1G>A rs1804814100
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) rs797045566
NM_001017420.3(ESCO2):c.922dup (p.Ser308fs)
NM_001017420.3(ESCO2):c.948dup (p.Lys317Ter)
NM_001017420.3(ESCO2):c.955+2_955+5del rs80359858

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