ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg) rs1954240719
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro) rs782396605
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser) rs1362644811
NM_022124.6(CDH23):c.9077+1G>A rs1841885880
NM_032119.4(ADGRV1):c.2241-2A>G rs929034631
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs) rs1767988429
NM_153676.4(USH1C):c.263del (p.Val88fs) rs1850961650
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter) rs1657965422
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del) rs1657799383
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter) rs2036152207
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs) rs2034850724
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter) rs2034849647
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr) rs2039616380
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr) rs2038569132
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter) rs1662772955

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