ClinVar Miner

List of variants in gene USH2A reported by Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

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Total variants: 23
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HGVS dbSNP
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.3(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406
NM_206933.3(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.3(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.3(USH2A):c.2139C>T (p.Gly713=) rs765293412
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.3(USH2A):c.3158-2A>G rs878853404
NM_206933.3(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.3(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.3(USH2A):c.4251+1G>A rs878853405
NM_206933.3(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6326-1G>A rs878853411
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.6470del (p.Arg2157fs) rs878853414

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