ClinVar Miner

List of variants in gene CERKL reported as pathogenic for Retinitis pigmentosa

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter) rs188492864 0.00006
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 0.00004
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter) rs398122963 0.00003
NM_201548.5(CERKL):c.780del (p.Pro261fs) rs398122964 0.00001
NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs) rs1026405158
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.450_451del (p.Ile150fs) rs1574489337

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