List of variants reported as pathogenic for Cone-rod dystrophy 12 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1301+2T>C	rs775957498	0.00004
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)	rs368213921
NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)

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