ClinVar Miner

List of variants studied for foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001080442.3(SLC38A8):c.190-8C>T rs1876961 0.00719
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys) rs372929441 0.00006
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter) rs761388176 0.00003
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter) rs149592537 0.00001
NM_001080442.3(SLC38A8):c.282del (p.Leu95fs)
NM_001080442.3(SLC38A8):c.530+2T>C
NM_001080442.3(SLC38A8):c.580C>T (p.Gln194Ter)
NM_001080442.3(SLC38A8):c.633-2A>C
NM_001080442.3(SLC38A8):c.930C>A (p.Tyr310Ter)

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