ClinVar Miner

List of variants in gene USH2A reported by Cytogenetics and Genomics Laboratory, Medical University of South Carolina

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101 0.00004

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