ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
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_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
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_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) rs192266658 0.00281
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
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_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
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_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) rs79705488 0.00151
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492 0.00150
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
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_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
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_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
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_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
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_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 0.00046
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=) rs145742052 0.00036
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_022124.6(CDH23):c.4095C>T (p.Asp1365=) rs368582818 0.00028
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) rs148752352 0.00023
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_022124.6(CDH23):c.4542G>A (p.Gln1514=) rs559831834 0.00019
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_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350 0.00018
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=) rs371789765 0.00016
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=) rs146374856 0.00016
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_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=) rs377269771 0.00013
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) rs540197003 0.00011
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_001384140.1(PCDH15):c.3951C>T (p.Thr1317=) rs144955298 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
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_000260.4(MYO7A):c.2316A>G (p.Thr772=) rs369466539 0.00009
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=) rs560284703 0.00009
NM_000260.4(MYO7A):c.4442-7G>A rs372023062 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384140.1(PCDH15):c.2751+9T>C rs180804907 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser) rs562052236 0.00009
NM_022124.6(CDH23):c.7245G>A (p.Val2415=) rs751865337 0.00009
NM_000260.4(MYO7A):c.3651C>T (p.His1217=) rs776731918 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=) rs554789699 0.00008
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=) rs200792575 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=) rs144655434 0.00008
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=) rs772650866 0.00007
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=) rs369183721 0.00007
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_001384140.1(PCDH15):c.1912C>T (p.Leu638=) rs763230126 0.00006
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=) rs139873638 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_022124.6(CDH23):c.2766C>T (p.Asn922=) rs371670151 0.00006
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=) rs368440578 0.00006
NM_022124.6(CDH23):c.738C>T (p.Tyr246=) rs745668474 0.00006
NM_022124.6(CDH23):c.9639G>A (p.Ser3213=) rs751829738 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=) rs572643730 0.00006
NM_153676.4(USH1C):c.2373G>A (p.Glu791=) rs746011575 0.00006
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) rs782554940 0.00005
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=) rs746162109 0.00005
NM_022124.6(CDH23):c.1410C>T (p.Tyr470=) rs549569431 0.00005
NM_022124.6(CDH23):c.2419C>T (p.Leu807=) rs748582000 0.00005
NM_022124.6(CDH23):c.30C>T (p.His10=) rs572955107 0.00005
NM_022124.6(CDH23):c.3106+11G>A rs759689776 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_022124.6(CDH23):c.8913C>T (p.Phe2971=) rs915502924 0.00005
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_000260.4(MYO7A):c.444C>T (p.Asn148=) rs1253765162 0.00004
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) rs548620787 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=) rs762720558 0.00004
NM_022124.6(CDH23):c.5535C>T (p.Asn1845=) rs779425775 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_033056.4(PCDH15):c.4575T>C (p.His1525=) rs746377416 0.00004
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=) rs61862392 0.00004
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_000260.4(MYO7A):c.1053G>A (p.Ser351=) rs187679481 0.00003
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=) rs994026891 0.00003
NM_022124.6(CDH23):c.2994C>T (p.Ala998=) rs767831814 0.00003
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) rs776501112 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.5610C>T (p.Val1870=) rs568993739 0.00003
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=) rs750385396 0.00003
NM_022124.6(CDH23):c.6870G>A (p.Thr2290=) rs778092747 0.00003
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176 0.00003
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_000260.4(MYO7A):c.4308C>T (p.Ile1436=) rs189972611 0.00002
NM_001384140.1(PCDH15):c.1918-6C>T rs776285978 0.00002
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=) rs765713345 0.00002
NM_022124.6(CDH23):c.1263C>T (p.Tyr421=) rs528720730 0.00002
NM_022124.6(CDH23):c.1317C>T (p.Asp439=) rs748828988 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.414C>T (p.Ser138=) rs745908110 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.9858C>T (p.His3286=) rs761835004 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
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_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=) rs782192254 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.345G>A (p.Ser115=) rs781980240 0.00001
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) rs751497005 0.00001
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=) rs568414079 0.00001
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=) rs375155751 0.00001
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) rs377251326 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=) rs1427922641 0.00001
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=) rs777099546 0.00001
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=) rs768200772 0.00001
NM_005709.4(USH1C):c.1236C>T (p.Leu412=) rs755834769 0.00001
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=) rs767119185 0.00001
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=) rs761003107 0.00001
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=) rs554295504 0.00001
NM_022124.6(CDH23):c.4536C>A (p.Ile1512=) rs191759543 0.00001
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846 0.00001
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=) rs1287792582 0.00001
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=) rs369805384 0.00001
NM_022124.6(CDH23):c.777C>A (p.Thr259=) rs542798557 0.00001
NM_022124.6(CDH23):c.9237C>T (p.Ala3079=) rs753289128 0.00001
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=) rs200141161 0.00001
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=) rs372095792 0.00001
NM_153676.4(USH1C):c.2400C>T (p.Asp800=) rs139787873 0.00001
NM_174878.3(CLRN1):c.270C>G (p.Leu90=) rs143232961 0.00001
NM_174878.3(CLRN1):c.540G>A (p.Thr180=) rs774615126 0.00001
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_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) rs543234546
NM_000260.4(MYO7A):c.4568+10C>A rs367801483
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=) rs762026724
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=) rs146374856
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=) rs1160719926
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_022124.6(CDH23):c.2193G>C (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2751C>T (p.Leu917=) rs369180032
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) rs377259987
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His) rs111033475
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=) rs1564538186
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=) rs372440971
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del) rs770671117
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=) rs534255804
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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