ClinVar Miner

List of variants reported for Cataract 6 multiple types by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004431.5(EPHA2):c.2145G>T (p.Gln715His) rs2124201142
NM_004431.5(EPHA2):c.2825+2del rs2524538503

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