ClinVar Miner

List of variants in gene CEP290 reported as pathogenic for Meckel syndrome, type 4

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00003
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.143_144del (p.Val48fs)
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.180+2T>A rs386834150
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4860del (p.Phe1620fs) rs2137155245
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter) rs763473957
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185

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