ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599

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