ClinVar Miner

List of variants in gene CEP152 reported as benign for Seckel syndrome

Included ClinVar conditions (16):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001194998.2(CEP152):c.*170T>C rs2169757
NM_001194998.2(CEP152):c.*194G>A rs144469727
NM_001194998.2(CEP152):c.-24A>T rs62621137
NM_001194998.2(CEP152):c.-25C>A rs185424999
NM_001194998.2(CEP152):c.-26A>T rs35871801
NM_001194998.2(CEP152):c.-94A>G rs2304546
NM_001194998.2(CEP152):c.1577+6G>A rs78525896
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684
NM_001194998.2(CEP152):c.191+11G>A rs75503597
NM_001194998.2(CEP152):c.2019-13G>A rs9302144
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709
NM_001194998.2(CEP152):c.3466+8G>C rs2306187
NM_001194998.2(CEP152):c.4094-9A>T rs80090788
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302
NM_001194998.2(CEP152):c.691+9C>T rs77732888
NM_001194998.2(CEP152):c.833-4G>A rs58156069

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