List of variants reported as pathogenic for Retinal dystrophy by Genetics and Molecular Pathology, SA Pathology

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000350.3(ABCA4):c.6386+1G>A	rs745654673
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.631-2A>G

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