List of variants reported as likely pathogenic for Seckel syndrome

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Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter)	rs202058504	0.00029
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)	rs201088712	0.00020
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)	rs201442213	0.00017
NM_001194998.2(CEP152):c.972+2T>A	rs766194658	0.00004
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)	rs762396810	0.00003
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter)	rs201822162	0.00003
NM_020921.4(NIN):c.6115C>T (p.Arg2039Ter)	rs373844676	0.00003
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter)	rs1310011888	0.00001
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)	rs995036419	0.00001
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter)	rs753579827	0.00001
NM_001353108.3(CEP63):c.182_185dup (p.Lys62delinsAsnTer)	rs746387482	0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)	rs797045450	0.00001
NM_018451.5(CENPJ):c.3367-1G>A	rs763715733	0.00001
NM_020921.4(NIN):c.6079-1686G>A	rs1310109020	0.00001
NM_001184.4(ATR):c.151+4A>G	rs1481733213
NM_001184.4(ATR):c.2320dup (p.Ile774fs)	rs757500301
NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn)	rs1553761113
NM_001184.4(ATR):c.5196+1G>A	rs1553760567
NM_001184.4(ATR):c.7597C>T (p.Arg2533Ter)
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter)	rs1342429887
NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter)	rs1897359016
NM_001353108.3(CEP63):c.1835del (p.Ser611_Leu612insTer)
NM_001353108.3(CEP63):c.595del (p.Glu199fs)	rs2109591981
NM_001353108.3(CEP63):c.790-2A>G
NM_001813.3(CENPE):c.1403_1404del (p.Glu468fs)
NM_001813.3(CENPE):c.2132-1G>C	rs1754377539
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)	rs144716013
NM_001813.3(CENPE):c.885del (p.Leu296fs)
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)	rs2045882525
NM_005879.3(TRAIP):c.1093C>T (p.Gln365Ter)
NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)
NM_014264.5(PLK4):c.1658del (p.Pro553fs)
NM_014264.5(PLK4):c.2562+1G>C	rs1473460404
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup)	rs776528706
NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)
NM_173685.4(NSMCE2):c.265-1G>A

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