ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa 38 by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter)	rs868566811
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)	rs775776288
NM_006343.3(MERTK):c.2190-1G>T	rs2104423659

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