ClinVar Miner

List of variants in gene USH2A reported as benign by ClinGen Hearing Loss Variant Curation Expert Panel

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Gene type:
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Total variants: 6
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NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579

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