List of variants reported as likely pathogenic for autosomal recessive disease by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)	rs781668118	0.00003
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)	rs2102496508
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)

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