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: 6

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HGVS	dbSNP	gnomAD frequency
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)	rs2077134911	0.00001
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)	rs1472791220	0.00001
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)	rs777069665
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)	rs777598239
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)	rs2076489265
NM_018418.5(SPATA7):c.[388C>T];[657del]

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