ClinVar Miner

List of variants in gene USH2A reported as pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 46
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.2168-1G>C rs748961218
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.10627_10628insA (p.Arg3543fs)
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer)
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6990del (p.Gly2331fs)
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272

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