List of variants in gene SPATA7 reported as benign for Leber congenital amaurosis 3

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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: 24

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HGVS	dbSNP	gnomAD frequency
NM_018418.5(SPATA7):c.913-23T>G	rs386579	0.99950
NM_018418.5(SPATA7):c.220G>A (p.Val74Met)	rs3179969	0.39047
NM_018418.5(SPATA7):c.20-19T>G	rs75595762	0.06915
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln)	rs10139784	0.04245
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu)	rs17124677	0.03851
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg)	rs61747004	0.03845
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu)	rs35137272	0.03845
NM_018418.5(SPATA7):c.94+20C>T	rs17124616	0.03841
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn)	rs17124662	0.03831
NM_018418.5(SPATA7):c.546T>C (p.Ser182=)	rs17124665	0.03818
NM_018418.5(SPATA7):c.191-14C>A	rs60770744	0.03598
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=)	rs112976233	0.01543
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)	rs151338404	0.00176
NM_018418.5(SPATA7):c.190+16T>C	rs201762735	0.00135
NM_018418.5(SPATA7):c.381C>T (p.Gly127=)	rs371280215	0.00058
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)	rs199727517	0.00021
NM_018418.5(SPATA7):c.345C>T (p.Ser115=)	rs754923626	0.00019
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)	rs142913613	0.00011
NM_018418.5(SPATA7):c.913-14T>A	rs185459765	0.00004
NM_018418.5(SPATA7):c.373-15A>G	rs781587897	0.00003
NM_018418.4(SPATA7):c.20_23del	rs527236050
NM_018418.5(SPATA7):c.1215+7C>A	rs201943545
NM_018418.5(SPATA7):c.20-12del
NM_018418.5(SPATA7):c.239-10dup

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