ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 7
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HGVS dbSNP
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_007123.5(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_007123.5(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_206933.3(USH2A):c.10388-1G>C rs1553261478
NM_206933.3(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164

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