List of variants reported as likely pathogenic for Cone-rod dystrophy 3 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)	rs886039882
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)	rs1570393848
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	rs141823837
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)	rs1570373408
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	rs748706582
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)	rs951379922

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