List of variants in gene SPATA7 reported as pathogenic for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)	rs80044281	0.00006
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	rs75895925	0.00001
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)	rs768028061
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)	rs777346333
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)	rs567890014
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]

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