ClinVar Miner

List of variants in gene USH2A reported by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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Gene type:
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Total variants: 49
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.672C>A (p.Ser224Arg) rs1571744237
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.3(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678
NM_206933.3(USH2A):c.10808C>T (p.Ala3603Val) rs753430531
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His) rs201709470
NM_206933.3(USH2A):c.12161G>T (p.Ser4054Ile) rs1571953381
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.13123T>G (p.Cys4375Gly) rs1558048384
NM_206933.3(USH2A):c.13274C>A (p.Thr4425Lys) rs201238640
NM_206933.3(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.1391G>A (p.Arg464His) rs771000800
NM_206933.3(USH2A):c.13948C>T (p.Gln4650Ter) rs1571945537
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2028C>A (p.Cys676Ter) rs1571623023
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.3005G>C (p.Cys1002Ser) rs1572060087
NM_206933.3(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5009T>C (p.Val1670Ala) rs750077857
NM_206933.3(USH2A):c.5074G>T (p.Asp1692Tyr) rs1571948108
NM_206933.3(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.3(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.3(USH2A):c.9346C>A (p.Pro3116Thr) rs140260219
NM_206933.3(USH2A):c.9370A>G (p.Arg3124Gly) rs1453306308
NM_206933.3(USH2A):c.9503G>T (p.Cys3168Phe) rs746007103
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs) rs1571941465
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263

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