ClinVar Miner

List of variants in gene USH2A reported as likely benign for Usher syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520 0.00098
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_206933.4(USH2A):c.15298-1176A>G rs144467375 0.00059
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) rs200243588 0.00026

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