ClinVar Miner

List of variants reported as likely pathogenic for Congenital primary aphakia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met) rs773472430 0.00001
NM_012186.3(FOXE3):c.286G>A (p.Ala96Thr) rs2124042297
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) rs774505755
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_012186.3(FOXE3):c.359G>C (p.Arg120Pro) rs772347736
NM_012186.3(FOXE3):c.388G>T (p.Val130Phe)

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