ClinVar Miner

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

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Total variants: 12
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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.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.3(USH2A):c.2195G>T (p.Gly732Val) rs1360258103
NM_206933.3(USH2A):c.8558+5G>A rs746331566
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867

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