ClinVar Miner

List of variants in gene CRB1 studied for Cone-rod dystrophy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr) rs754575460 0.00002
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116

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