ClinVar Miner

List of variants reported as benign for Retinitis pigmentosa 26 by Natera, Inc.

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.1506C>T (p.Asp502=) rs10180793 0.99229
NM_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) rs61750041 0.15130
NM_201548.5(CERKL):c.895+3A>G rs12623687 0.13988
NM_201548.5(CERKL):c.199G>A (p.Ala67Thr) rs61733527 0.01270
NM_201548.5(CERKL):c.298T>G (p.Ser100Ala) rs34753159 0.00738
NM_201548.5(CERKL):c.239-4dup rs201864646

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