ClinVar Miner

List of variants in gene USH2A reported by Baylor Genetics

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Total variants: 25
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.9906C>T (p.Asn3302=) rs757439664
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2410C>T (p.Pro804Ser)
NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.7301-6C>T rs375499259

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