List of variants in gene SPATA7 reported as likely 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)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)	rs767745816	0.00002
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)	rs2077134911	0.00001
NM_018418.5(SPATA7):c.20-1G>A	rs554224437	0.00001
NM_018418.4(SPATA7):c.20_23del	rs527236050
NM_018418.5(SPATA7):c.1082+2del
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)	rs777069665
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs)	rs1436269510
NM_018418.5(SPATA7):c.1361dup (p.Asn454fs)	rs2077137130
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
NM_018418.5(SPATA7):c.372+1G>A
NM_018418.5(SPATA7):c.94+1G>C
NM_018418.5(SPATA7):c.94+2T>C	rs786204787
NM_018418.5(SPATA7):c.949dup (p.Ile317fs)	rs2140004149
NM_018418.5(SPATA7):c.[388C>T];[657del]

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