List of variants reported as pathogenic for Leber congenital amaurosis by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	rs121434337	0.00001
NM_003322.6(TULP1):c.1112+2T>G	rs1761066725
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)	rs878853392
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	rs200387832

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