ClinVar Miner

List of variants reported as benign for cone-rod dystrophy 13 by Genome-Nilou Lab

Included ClinVar conditions (2):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)	rs6571751	0.48811
NM_020366.4(RPGRIP1):c.1152-65G>A	rs3748357	0.34499
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)	rs3748361	0.25511

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