ClinVar Miner

List of variants reported for Retinitis pigmentosa 26 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.896-18T>A rs13003064 0.58461
NM_201548.5(CERKL):c.239-12T>A rs6433923 0.22971
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_201548.5(CERKL):c.365T>G (p.Leu122Arg) rs558913945 0.00001

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