List of variants reported as pathogenic for Retinitis pigmentosa 39 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)	rs397517979	0.00002
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)	rs398124618
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)	rs762159022

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