ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_001194998.2(CEP152):c.-24A>T rs62621137 0.12224
NM_001194998.2(CEP152):c.-25C>A rs185424999 0.12222
NM_001194998.2(CEP152):c.-26A>T rs35871801 0.12222
NM_001194998.2(CEP152):c.-94A>G rs2304546 0.11928
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
NM_001194998.2(CEP152):c.*170T>C rs2169757 0.03605
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557 0.03157
NM_001194998.2(CEP152):c.191+11G>A rs75503597 0.02449
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683 0.00477
NM_001194998.2(CEP152):c.*194G>A rs144469727 0.00475
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684 0.00460
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302 0.00010

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