ClinVar Miner

List of variants in gene CYP1B1 reported as uncertain significance by Eye Genetics Research Group, Children's Medical Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875

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