List of variants reported as pathogenic for Leber congenital amaurosis 14

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	rs772136379	0.00001
NC_000004.12:g.(?_154740841)_(154749136_?)del
NM_000350.3(ABCA4):c.1225del (p.Arg409fs)	rs387906387
NM_001378454.1(ALMS1):c.3149dup (p.Tyr1050Ter)	rs1671886130
NM_001378454.1(ALMS1):c.5173dup (p.Ala1725fs)	rs1671943905
NM_004744.5(LRAT):c.217_218del (p.Met73fs)	rs1560870755
NM_004744.5(LRAT):c.400_401del (p.Lys134fs)	rs761717462
NM_004744.5(LRAT):c.504C>A (p.Cys168Ter)	rs780578479
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg)	rs104893848
NM_004744.5(LRAT):c.554_555del (p.Val185fs)	rs1732935012
NM_015120.4(ALMS1):c.1241_1341del	rs1671380508

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