List of variants studied for Usher syndrome type 2A by Pars Genome Lab

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)	rs149304901	0.00187
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)	rs146264950	0.00043
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)	rs138879998	0.00011
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)	rs200940197	0.00004
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)	rs886043586

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