List of variants reported as likely pathogenic for Leber congenital amaurosis 7; Cone-rod dystrophy 2 by Invitae

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000554.6(CRX):c.166G>A (p.Ala56Thr)	rs61748437	0.00002
NM_000554.6(CRX):c.437_449del (p.Leu146fs)	rs1968165080
NM_000554.6(CRX):c.463dup (p.Thr155fs)	rs2123743110
NM_000554.6(CRX):c.545C>G (p.Ser182Ter)	rs2123743235
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)	rs1064797247
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
NM_000554.6(CRX):c.766C>T (p.Gln256Ter)	rs1968173024
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter)	rs767273026

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