ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 2A by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.1644+34A>C rs7515253 0.28314
NM_206933.4(USH2A):c.11711+71A>T rs6694510 0.25144
NM_206933.4(USH2A):c.11231+45C>T rs17025373 0.06476
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.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.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) rs12073994 0.00488
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883 0.00438
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
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.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=) rs147037435 0.00067
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=) rs149570469 0.00057
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
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.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.8805C>T (p.Val2935=) rs111033534 0.00049
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
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.5751C>T (p.Tyr1917=) rs145742052 0.00036
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.9495T>C (p.Asp3165=) rs41305094 0.00030
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) rs137963595 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=) rs139701970 0.00024
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016 0.00024
NM_206933.4(USH2A):c.1550+10T>C rs200728788 0.00021
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
NM_206933.4(USH2A):c.6325+13G>A rs368490585 0.00021
NM_206933.4(USH2A):c.7491G>T (p.Val2497=) rs142143100 0.00021
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 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.9008T>C (p.Val3003Ala) rs138574386 0.00015
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=) rs397517997 0.00014
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351 0.00013
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
NM_206933.4(USH2A):c.6387A>G (p.Thr2129=) rs150282853 0.00012
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=) rs369778429 0.00012
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) rs147842359 0.00011
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=) rs200287425 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.6958-5C>T rs147914083 0.00010
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=) rs369335995 0.00009
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=) rs138064171 0.00009
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=) rs143683292 0.00009
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899 0.00007
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=) rs777803742 0.00007
NM_206933.4(USH2A):c.12624C>T (p.Asp4208=) rs375223901 0.00006
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770 0.00006
NM_206933.4(USH2A):c.4886-12C>T rs199823130 0.00006
NM_206933.4(USH2A):c.5496G>A (p.Val1832=) rs146585940 0.00006
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=) rs41277216 0.00006
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=) rs200876799 0.00006
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=) rs147615382 0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) rs141917231 0.00006
NM_206933.4(USH2A):c.9816G>A (p.Pro3272=) rs745566865 0.00006
NM_206933.4(USH2A):c.11390-10C>T rs750110818 0.00005
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg) rs201864716 0.00005
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=) rs151165599 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=) rs1197075904 0.00004
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
NM_206933.4(USH2A):c.15369C>T (p.Val5123=) rs142939648 0.00004
NM_206933.4(USH2A):c.1840+9C>T rs1452138200 0.00004
NM_206933.4(USH2A):c.2628T>A (p.Gly876=) rs768522338 0.00004
NM_206933.4(USH2A):c.3811+10C>A rs769756794 0.00004
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=) rs767205760 0.00004
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=) rs766310214 0.00003
NM_206933.4(USH2A):c.1449G>A (p.Thr483=) rs755603663 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=) rs747065891 0.00003
NM_206933.4(USH2A):c.5607A>G (p.Thr1869=) rs779171771 0.00003
NM_206933.4(USH2A):c.627G>A (p.Lys209=) rs146402815 0.00003
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) rs773159617 0.00003
NM_206933.4(USH2A):c.9990T>C (p.Asn3330=) rs762565385 0.00003
NM_206933.4(USH2A):c.10183-12C>T rs747413632 0.00002
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818 0.00002
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=) rs778162193 0.00002
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=) rs773859845 0.00002
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532 0.00002
NM_206933.4(USH2A):c.5538G>C (p.Leu1846=) rs370356689 0.00002
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165 0.00002
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=) rs1305453013 0.00002
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185 0.00002
NM_206933.4(USH2A):c.10311G>A (p.Lys3437=) rs777618025 0.00001
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967 0.00001
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=) rs113805451 0.00001
NM_206933.4(USH2A):c.12987T>C (p.Tyr4329=) rs1203365063 0.00001
NM_206933.4(USH2A):c.13113A>G (p.Gln4371=) rs773670510 0.00001
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=) rs187707339 0.00001
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) rs397517986 0.00001
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992 0.00001
NM_206933.4(USH2A):c.1482T>C (p.Tyr494=) rs1015357632 0.00001
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995 0.00001
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=) rs147916810 0.00001
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.2169G>A (p.Gly723=) rs751156464 0.00001
NM_206933.4(USH2A):c.2643G>A (p.Gln881=) rs1286317611 0.00001
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=) rs946318077 0.00001
NM_206933.4(USH2A):c.441A>G (p.Ser147=) rs773525654 0.00001
NM_206933.4(USH2A):c.5776+7T>G rs397518020 0.00001
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028 0.00001
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) rs202162396 0.00001
NM_206933.4(USH2A):c.7596A>G (p.Lys2532=) rs201084527 0.00001
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274 0.00001
NM_206933.4(USH2A):c.897A>G (p.Gln299=) rs201062965 0.00001
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=) rs563370514
NM_206933.4(USH2A):c.10398C>T (p.Leu3466=) rs563370514
NM_206933.4(USH2A):c.10740+7G>C rs201206110
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=) rs747834026
NM_206933.4(USH2A):c.1116A>T (p.Ser372=) rs754923350
NM_206933.4(USH2A):c.11390-24CT[7] rs140003076
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.1299T>C (p.Pro433=) rs1571702060
NM_206933.4(USH2A):c.13767T>A (p.Phe4589Leu) rs2102664559
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=) rs373694614
NM_206933.4(USH2A):c.14134-9T>C rs899521308
NM_206933.4(USH2A):c.14595A>G (p.Gln4865=)
NM_206933.4(USH2A):c.147T>C (p.Val49=) rs1553258114
NM_206933.4(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=) rs397517993
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.15144G>C (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=) rs397518000
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2829C>A (p.Gly943=) rs397518007
NM_206933.4(USH2A):c.2994-10T>G rs748702655
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=) rs727503733
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.4335T>G (p.Thr1445=) rs397518016
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=) rs727503729
NM_206933.4(USH2A):c.5919G>A (p.Val1973=) rs2102546199
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=) rs1052386893
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=) rs773734876
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=) rs1487136272
NM_206933.4(USH2A):c.6711C>T (p.Asp2237=) rs138959688
NM_206933.4(USH2A):c.687C>A (p.Gly229=) rs766740504
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=) rs1269441158
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=) rs577063450
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=) rs1665138334
NM_206933.4(USH2A):c.8355T>G (p.Pro2785=) rs2102451831
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=) rs371183424
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=) rs876657631

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