ClinVar Miner

List of variants in gene USH2A studied for Retinitis pigmentosa-deafness syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) rs201127450 0.00002
NM_206933.4(USH2A):c.-229C>T rs151238022
NM_206933.4(USH2A):c.3317-14del rs376363548
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.4252-36CTTT[7] rs372388546
NM_206933.4(USH2A):c.4627+1205_4627+1208del rs751661540
NM_206933.4(USH2A):c.4627+945AT[3] rs886045946

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