ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 7; Cone-rod dystrophy 2

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000554.6(CRX):c.102C>T (p.Ser34=) rs139778328 0.00102
NM_000554.6(CRX):c.618C>T (p.Ser206=) rs145117150 0.00072
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_000554.6(CRX):c.276T>G (p.Ala92=) rs536401910 0.00005
NM_000554.6(CRX):c.591G>A (p.Pro197=) rs769009205 0.00004
NM_000554.6(CRX):c.645C>T (p.Phe215=) rs191794330 0.00004
NM_000554.6(CRX):c.101-3del rs727503894

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