ClinVar Miner

List of variants in gene USH2A reported as uncertain significance for Retinitis pigmentosa

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Total variants: 30
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HGVS dbSNP
NM_206933.3(USH2A):c.10010G>T (p.Cys3337Phe)
NM_206933.3(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759
NM_206933.3(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His)
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12695C>A (p.Pro4232Gln) rs745371873
NM_206933.3(USH2A):c.13123T>G (p.Cys4375Gly)
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.4146G>C (p.Trp1382Cys)
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.3(USH2A):c.6728G>T (p.Gly2243Val)
NM_206933.3(USH2A):c.672C>A (p.Ser224Arg)
NM_206933.3(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.3(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390
NM_206933.3(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720
NM_206933.3(USH2A):c.9346C>A (p.Pro3116Thr)
NM_206933.3(USH2A):c.9503G>T (p.Cys3168Phe)
NM_206933.3(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992

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