List of variants reported as pathogenic for Usher syndrome type 2A by Baylor Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
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.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)	rs765476745	0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)	rs757676723	0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)	rs752377040	0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	rs201863550	0.00002
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)	rs1358947010	0.00001
NM_206933.4(USH2A):c.532dup (p.Thr178fs)	rs1571801788

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