List of variants in gene SLC38A8 reported as 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: 10

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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.697G>A (p.Glu233Lys)	rs372929441	0.00006
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)	rs761388176	0.00003
NM_001080442.3(SLC38A8):c.116del (p.Gly39fs)	rs2151131708
NM_001080442.3(SLC38A8):c.11del (p.Gln4fs)
NM_001080442.3(SLC38A8):c.388+1G>T	rs149436446
NM_001080442.3(SLC38A8):c.435G>A (p.Trp145Ter)	rs752802453
NM_001080442.3(SLC38A8):c.490_491del (p.Leu164fs)	rs1597273765
NM_001080442.3(SLC38A8):c.632+1G>A	rs1473492838
NM_001080442.3(SLC38A8):c.95T>G (p.Ile32Ser)	rs587777253

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