List of variants reported as pathogenic for Usher syndrome type 2A by Fulgent Genetics, Fulgent Genetics

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Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_206933.4(USH2A):c.2167+5G>A	rs771583281	0.00009
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	rs111033264	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.12295-3T>A	rs111033518	0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	rs397517963	0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	rs111033273	0.00003
NM_206933.4(USH2A):c.7595-3C>G	rs201657446	0.00003
NM_206933.4(USH2A):c.8559-2A>G	rs397518039	0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)	rs766590491	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.9571-2A>G	rs751111524	0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	rs749228276	0.00003
NM_206933.4(USH2A):c.9371+1G>C	rs41308425	0.00002
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.11389+3A>T	rs753886165	0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs)	rs774677256	0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)	rs1358947010	0.00001
NM_206933.4(USH2A):c.12067-2A>G	rs397517978	0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	rs753330544	0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	rs770553471	0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	rs146733615	0.00001
NM_206933.4(USH2A):c.1841-2A>G	rs397518003	0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)	rs534534437	0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	rs368687374	0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	rs767078782	0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)	rs764797292	0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)	rs745350407	0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)	rs1171672823	0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)	rs1553299079	0.00001
NM_206933.4(USH2A):c.5776+1G>A	rs876657731	0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)	rs1485173724	0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)	rs1424639717	0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	rs1064797134	0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)	rs749452910	0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	rs397518041	0.00001
NM_206933.4(USH2A):c.9258+1G>A	rs748810737	0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)	rs772100045	0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	rs727503731
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)	rs397517964
NM_206933.4(USH2A):c.10388-1G>A	rs1553261478
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	rs1366496013
NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)	rs397517973
NM_206933.4(USH2A):c.1144-2A>T	rs2037686445
NM_206933.4(USH2A):c.11549-1G>A	rs878853407
NM_206933.4(USH2A):c.1214del (p.Asn405fs)	rs750228923
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)	rs1362058696
NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)	rs766491471
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)	rs762159022
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	rs527236137
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)	rs397517988
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)	rs1657798642
NM_206933.4(USH2A):c.14065del (p.Ile4689fs)
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)	rs747063294
NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)	rs727504867
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)	rs754834155
NM_206933.4(USH2A):c.15104_15105del (p.Thr5035fs)	rs2102630677
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)	rs767209934
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)	rs1558036860
NM_206933.4(USH2A):c.1679del (p.Pro560fs)	rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	rs483353054
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)	rs2037013894
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)	rs868562952
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)	rs376674482
NM_206933.4(USH2A):c.2168-2A>G	rs993185407
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)	rs1553258097
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)	rs2102545818
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)	rs886039450
NM_206933.4(USH2A):c.3518C>A (p.Ser1173Ter)
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)	rs767797828
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)	rs2034938852
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)	rs756623509
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)	rs2034899784
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	rs746551311
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)	rs111033367
NM_206933.4(USH2A):c.4515_4518del (p.Arg1505fs)
NM_206933.4(USH2A):c.5218del (p.Ile1740fs)	rs2032019895
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	rs397518021
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)	rs111033268
NM_206933.4(USH2A):c.6325+1G>A	rs1293202153
NM_206933.4(USH2A):c.6657+2T>C
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)	rs376983577
NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)
NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter)	rs2102469493
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	rs1571783742
NM_206933.4(USH2A):c.8224-1G>C	rs1664846558
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)	rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)	rs1662880750

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