List of variants reported as likely pathogenic for Retinal dystrophy by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	rs1762111	0.00132
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)	rs374714909	0.00004
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter)	rs769742202	0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	rs121908180	0.00001
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)	rs1582780550
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg)	rs886039299
NM_000350.3(ABCA4):c.6386+1G>A	rs745654673
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)	rs1563329888

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