List of variants reported as likely pathogenic for Usher syndrome type 2A by Mendelics

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Total variants: 10

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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.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)	rs1415484067	0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)	rs775177930	0.00001
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)	rs983763783	0.00001
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)	rs1571949388
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)	rs1487450999
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)	rs1572074313
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)	rs762869685

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