ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by GeneDx

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Total variants: 24
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HGVS dbSNP
NM_206933.3(USH2A):c.10609C>T (p.Leu3537Phe) rs138656755
NM_206933.3(USH2A):c.12271A>G (p.Met4091Val) rs144168442
NM_206933.3(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.13832C>G (p.Ala4611Gly) rs376077079
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.15052+8A>G rs773109018
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.3581C>T (p.Pro1194Leu) rs145114751
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.6133C>T (p.His2045Tyr) rs749333215
NM_206933.3(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082
NM_206933.3(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966
NM_206933.3(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.3(USH2A):c.7540A>C (p.Asn2514His) rs777618162
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.9614G>A (p.Arg3205His) rs200726531
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989

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