ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) rs147899488 0.00045
NM_015629.4(PRPF31):c.1073+5G>A rs759589041 0.00018
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_015629.4(PRPF31):c.373C>G (p.Leu125Val) rs376246791 0.00001
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000717.5(CA4):c.686G>A (p.Cys229Tyr) rs759956725
NM_006343.3(MERTK):c.2060G>T (p.Arg687Leu) rs775443181

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