ClinVar Miner

List of variants studied for Glaucoma 3A by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024

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