List of variants reported as pathogenic for Usher syndrome type 2A by 3billion, Medical Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.9570+1G>A	rs760225886	0.00004
NM_206933.4(USH2A):c.8559-2A>G	rs397518039	0.00003
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)	rs757154662	0.00002
NM_206933.4(USH2A):c.12067-2A>G	rs397517978	0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00001
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)	rs769198746	0.00001
NM_206933.4(USH2A):c.5776+1G>A	rs876657731	0.00001
NM_206933.4(USH2A):c.10585+1G>A	rs2102763351
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
NM_206933.4(USH2A):c.13599del (p.Met4535fs)	rs2102664886
NM_206933.4(USH2A):c.14835del (p.Val4946fs)	rs2102636076
NM_206933.4(USH2A):c.1645-2A>G
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)

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