List of variants reported as pathogenic for Usher syndrome type 2A by Genetics and Molecular Pathology, SA Pathology

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)	rs765476745	0.00002
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)	rs1553299079	0.00001
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	rs1366496013

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