ClinVar Miner

List of variants studied for Usher syndrome type 2A by DBGen Ocular Genomics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.4087del (p.Val1363fs) rs2102460761
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs) rs2102559650
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) rs2102469649
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) rs768367348
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs) rs2102451863
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) rs2102796411

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