List of variants in gene USH2A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)	rs150264392	0.00246
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	rs41303255	0.00190
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	rs146824138	0.00071
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)	rs115403785	0.00058
NM_206933.4(USH2A):c.7301-6C>T	rs375499259	0.00054
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)	rs142381713	0.00049
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)	rs146445078	0.00047
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	rs143275144	0.00031
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)	rs138326802	0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)	rs150280500	0.00026
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)	rs200949691	0.00024
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)	rs150230450	0.00023
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)	rs189729452	0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)	rs143208990	0.00019
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)	rs144768593	0.00019
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)	rs147532612	0.00018
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)	rs140331348	0.00014
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)	rs150060240	0.00010
NM_206933.4(USH2A):c.11013T>G (p.Pro3671=)	rs777699434	0.00009
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)	rs371201450	0.00008
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)	rs201630132	0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)	rs199672621	0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)	rs541918040	0.00007
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)	rs199885325	0.00006
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)	rs142649882	0.00005
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	rs368675850	0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)	rs550096037	0.00004
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)	rs770394440	0.00004
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)	rs774844491	0.00002
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)	rs754979740	0.00002
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)	rs373152283	0.00002
NM_206933.4(USH2A):c.15520-1G>A	rs767265734	0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)	rs768253909	0.00002
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)	rs766443785	0.00002
NM_206933.4(USH2A):c.1886G>T (p.Gly629Val)	rs754159296	0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)	rs727503734	0.00001
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)	rs761752531	0.00001
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn)	rs772408328	0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)	rs373599651	0.00001
NM_206933.4(USH2A):c.6032A>G (p.Asn2011Ser)	rs1371723634	0.00001
NM_206933.4(USH2A):c.1039G>C (p.Asp347His)	rs772317024
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)	rs530322386
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr)	rs1553261461
NM_206933.4(USH2A):c.10693T>C (p.Tyr3565His)	rs1553261365
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)	rs144560419
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)	rs1064797132
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)	rs1064797131
NM_206933.4(USH2A):c.1241A>G (p.Tyr414Cys)	rs1571702162
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
NM_206933.4(USH2A):c.12706T>A (p.Cys4236Ser)	rs2102666455
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)	rs1553252463
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)	rs1064797130
NM_206933.4(USH2A):c.13004C>A (p.Ala4335Asp)	rs771748964
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)	rs553956503
NM_206933.4(USH2A):c.1377T>A (p.Pro459=)	rs1064797140
NM_206933.4(USH2A):c.1384A>T (p.Asn462Tyr)
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)	rs1064797129
NM_206933.4(USH2A):c.14408T>C (p.Ile4803Thr)	rs1056524280
NM_206933.4(USH2A):c.146T>A (p.Val49Asp)	rs1553258115
NM_206933.4(USH2A):c.15238G>T (p.Val5080Leu)	rs1558031463
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)	rs767209934
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)	rs201513512
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)	rs727505155
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)	rs755735339
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)	rs1064797139
NM_206933.4(USH2A):c.1672G>A (p.Asp558Asn)	rs1553327490
NM_206933.4(USH2A):c.2062C>T (p.Pro688Ser)	rs1571622927
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)	rs2102546492
NM_206933.4(USH2A):c.2202A>G (p.Lys734=)	rs1416725341
NM_206933.4(USH2A):c.2218A>T (p.Asn740Tyr)	rs1229489278
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)	rs770983063
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)	rs151177516
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)	rs1171264735
NM_206933.4(USH2A):c.2999A>C (p.Gln1000Pro)	rs1486615749
NM_206933.4(USH2A):c.3157+3_3157+5delinsTAA
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser)	rs1064797137
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg)	rs768461447
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)	rs755849364
NM_206933.4(USH2A):c.3836A>G (p.Tyr1279Cys)
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)	rs372993160
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)	rs1553312493
NM_206933.4(USH2A):c.4646G>C (p.Arg1549Pro)	rs190170807
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu)	rs1558251710
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala)	rs1558251708
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val)	rs2032145863
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)	rs886039867
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)	rs760543320
NM_206933.4(USH2A):c.5921C>T (p.Thr1974Ile)	rs1558241630
NM_206933.4(USH2A):c.6554A>G (p.His2185Arg)	rs1064797135
NM_206933.4(USH2A):c.7297G>A (p.Gly2433Arg)	rs1281049882
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
NM_206933.4(USH2A):c.8845+4A>G	rs1057519222
NM_206933.4(USH2A):c.9372-4G>A	rs199953845
NM_206933.4(USH2A):c.9993G>A (p.Met3331Ile)	rs1255334312

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.