ClinVar Miner

List of variants in gene CRX reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
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.102C>T (p.Ser34=) rs139778328 0.00102
NM_000554.6(CRX):c.618C>T (p.Ser206=) rs145117150 0.00072
NM_000554.6(CRX):c.332A>G (p.Gln111Arg) rs760741667 0.00004
NM_000554.6(CRX):c.101-3del rs727503894
NM_000554.6(CRX):c.403C>A (p.Pro135Thr) rs572439956
NM_000554.6(CRX):c.448del (p.Ser150fs) rs886044121
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs) rs1555802058

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