List of variants in gene SLC38A8 reported as likely pathogenic for foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)	rs139373929	0.00024
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)	rs761388176	0.00003
NM_001080442.3(SLC38A8):c.806-3C>G	rs1057516193	0.00003
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)	rs149592537	0.00001
NM_001080442.3(SLC38A8):c.805+1G>A	rs1379690075	0.00001
NM_001080442.3(SLC38A8):c.1053del (p.Ile352fs)
NM_001080442.3(SLC38A8):c.282del (p.Leu95fs)
NM_001080442.3(SLC38A8):c.388+1G>C
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.698A>G (p.Glu233Gly)	rs2085112203
NM_001080442.3(SLC38A8):c.895_901del (p.Arg299fs)	rs1228073295
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)	rs1057521634
NM_001080442.3(SLC38A8):c.930C>A (p.Tyr310Ter)

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