ClinVar Miner

List of variants reported as pathogenic for Patterned macular dystrophy 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00002
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	rs1554269046

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