ClinVar Miner

List of variants in gene USH2A reported as uncertain significance for Usher syndrome, type 2A

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Total variants: 14
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HGVS dbSNP
NM_007123.5(USH2A):c.1346G>A (p.Arg449His)
NM_206933.2(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759
NM_206933.2(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.2(USH2A):c.1316T>C (p.Leu439Pro)
NM_206933.2(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.2(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.2(USH2A):c.1808G>A (p.Gly603Glu)
NM_206933.2(USH2A):c.3043C>T (p.His1015Tyr) rs142302070
NM_206933.2(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.2(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141
NM_206933.2(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.2(USH2A):c.8200G>A (p.Val2734Met) rs397518035
NM_206933.2(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.3(USH2A):c.1571C>T (p.Ala524Val)

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