ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 2A by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
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.14454G>A (p.Pro4818=) rs137902779 0.00293
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.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
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.5048A>G (p.Asn1683Ser) rs140080678 0.00084
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.5409C>G (p.Val1803=) rs140326085 0.00070
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
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.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00015
NM_206933.4(USH2A):c.2460T>C (p.Asn820=) rs781373128 0.00015
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala) rs138574386 0.00015
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=) rs149877542 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) rs200525258 0.00010
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=) rs144655434 0.00008
NM_206933.4(USH2A):c.1158C>A (p.Ile386=) rs1037072307 0.00007
NM_206933.4(USH2A):c.5061T>C (p.Ile1687=) rs144857806 0.00007
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=) rs764839361 0.00007
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=) rs777803742 0.00007
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=) rs778669346 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.14532G>A (p.Thr4844=) rs150350278 0.00004
NM_206933.4(USH2A):c.14961G>A (p.Ala4987=) rs568581229 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.22T>C (p.Leu8=) rs778803503 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_206933.4(USH2A):c.6096A>G (p.Leu2032=) rs376669318 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_206933.4(USH2A):c.11580C>T (p.Val3860=) rs762253687 0.00003
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=) rs766310214 0.00003
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=) rs192709780 0.00003
NM_206933.4(USH2A):c.7698T>C (p.Tyr2566=) rs533751971 0.00003
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=) rs571110005 0.00003
NM_206933.4(USH2A):c.9220C>T (p.Leu3074=) rs1460250943 0.00003
NM_206933.4(USH2A):c.1011T>C (p.Pro337=) rs146950070 0.00002
NM_206933.4(USH2A):c.1215T>C (p.Asn405=) rs745587883 0.00002
NM_206933.4(USH2A):c.13485T>A (p.Arg4495=) rs533727047 0.00002
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=) rs773859845 0.00002
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=) rs764479854 0.00002
NM_206933.4(USH2A):c.5829T>C (p.Asp1943=) rs140922350 0.00002
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=) rs766443785 0.00002
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=) rs372690499 0.00001
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=) rs755924483 0.00001
NM_206933.4(USH2A):c.12369T>C (p.Asp4123=) rs779194517 0.00001
NM_206933.4(USH2A):c.12585C>T (p.Phe4195=) rs763205825 0.00001
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=) rs762246558 0.00001
NM_206933.4(USH2A):c.13236G>A (p.Gln4412=) rs1013791595 0.00001
NM_206933.4(USH2A):c.3762C>A (p.Ile1254=) rs533691745 0.00001
NM_206933.4(USH2A):c.6780C>G (p.Ser2260=) rs762148018 0.00001
NM_206933.4(USH2A):c.705A>G (p.Thr235=) rs767897482 0.00001
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) rs202162396 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.9528T>G (p.Pro3176=) rs781101196 0.00001
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=) rs979950007 0.00001
NM_206933.4(USH2A):c.11390-24CT[8] rs140003076
NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg) rs533097255
NM_206933.4(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=) rs1571923764
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn) rs540564733
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=) rs372843685
NM_206933.4(USH2A):c.3783A>G (p.Val1261=) rs200698585
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=) rs560847831
NM_206933.4(USH2A):c.732T>C (p.Gly244=) rs576466805
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=) rs577063450
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=) rs371183424
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=) rs755843100

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