List of variants reported as likely pathogenic for Usher syndrome type 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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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.14489C>G (p.Ser4830Ter)	rs184351619	0.00005
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)	rs1342455785	0.00003
NM_032119.4(ADGRV1):c.13232-1G>A	rs764583867	0.00001
NM_032119.4(ADGRV1):c.9907-1G>A	rs769286352	0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)	rs111033265	0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	0.00001
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	rs779791079
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)	rs1656163649
NM_206933.4(USH2A):c.387del (p.Phe129fs)	rs1484339054
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)	rs727505343
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)	rs1209837469
NM_206933.4(USH2A):c.6957+1G>C	rs2102458321
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	rs1388040238

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