ClinVar Miner

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
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Total variants: 3

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HGVS	dbSNP
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)	rs768028061
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)	rs371609982
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]

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