ClinVar Miner

List of variants reported as likely benign for Seckel syndrome 5 by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042 0.00273
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570 0.00243
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641 0.00016
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001194998.2(CEP152):c.*255T>C rs187213125 0.00009
NM_001194998.2(CEP152):c.-77G>C rs141463032

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