ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa 19 by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	rs281865377

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