ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Gene type:
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Total variants: 5
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NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990

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