ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa 19 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.885del (p.Leu296fs)	rs764759172	0.00002
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	rs61750654	0.00001

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