ClinVar Miner

List of variants studied for Glaucoma 3, primary congenital, E by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000459.5(TEK):c.3263T>C (p.Ile1088Thr) rs748930375 0.00001
NM_000459.5(TEK):c.1490-1G>A rs1380793724
NM_000459.5(TEK):c.154dup (p.His52fs) rs2131119729
NM_000459.5(TEK):c.2062A>G (p.Lys688Glu) rs2488965073
NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter) rs1826003461
NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter) rs2131266023
NM_000459.5(TEK):c.32G>A (p.Gly11Glu) rs2131018026
NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs) rs2131141182
NM_000459.5(TEK):c.857G>T (p.Gly286Val) rs2131150099

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