List of variants in gene LRAT reported as likely pathogenic for Leber congenital amaurosis 14

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_004744.5(LRAT):c.224C>T (p.Pro75Leu)	rs766279892	0.00003
NM_004744.5(LRAT):c.149T>G (p.Val50Gly)	rs1384466058	0.00001
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp)	rs1396648864	0.00001
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)	rs1578860322
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg)	rs1732848653
NM_004744.5(LRAT):c.487C>G (p.His163Asp)	rs1010347467
NM_004744.5(LRAT):c.487C>T (p.His163Tyr)	rs1010347467

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