ClinVar Miner

List of variants in gene LOC130056226, SPATA7 studied for Leber congenital amaurosis

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)	rs371609982
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)	rs200244203
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)

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