ClinVar Miner

List of variants reported as benign for Enhanced S-cone syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_014249.4(NR2E3):c.864T>A (p.Gly288=) rs537802684 0.00001
NM_014249.4(NR2E3):c.76A>C (p.Lys26Gln) rs373237215
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249

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