ClinVar Miner

Variants with conflicting interpretations studied for Usher syndrome type 2A

Coded as:
Minimum review status of the submission for Usher syndrome type 2A: Collection method of the submission for Usher syndrome type 2A:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1253 412 2 97 36 0 7 136

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Usher syndrome type 2A pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 62 7 0 0
likely pathogenic 62 2 2 0 0
uncertain significance 7 2 0 29 10
likely benign 0 0 29 0 35
benign 0 0 10 35 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Usher syndrome type 2A 1253 412 2 97 36 0 7 136

All variants with conflicting interpretations #

Total variants: 136
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) rs146406377 0.00038
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) rs137963595 0.00026
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) rs147842359 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
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.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) rs141917231 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 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.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 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.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 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.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
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.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801

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