ClinVar Miner

List of variants reported as likely benign for Metachromatic leukodystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 447
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.684+33C>T rs6151416 0.04666
NM_000487.6(ARSA):c.1107+125C>T rs6151423 0.03696
NM_000487.6(ARSA):c.-136C>G rs6151408 0.02754
NM_000487.6(ARSA):c.*2374C>A rs11704557 0.02731
NM_000487.6(ARSA):c.*503A>G rs141494339 0.02726
NM_000487.6(ARSA):c.1108-77C>A rs6151424 0.02721
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) rs148279196 0.00269
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_002778.4(PSAP):c.120C>T (p.Ser40=) rs141231601 0.00134
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427 0.00096
NM_000487.6(ARSA):c.564C>T (p.Ser188=) rs113209108 0.00071
NM_000487.6(ARSA):c.1251C>T (p.His417=) rs140158705 0.00066
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386 0.00042
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr) rs145157196 0.00040
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) rs138636858 0.00036
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_000487.6(ARSA):c.979+9G>A rs144915219 0.00030
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val) rs201693608 0.00009
NM_000487.6(ARSA):c.489C>T (p.Cys163=) rs771770056 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_000487.6(ARSA):c.1210+14G>A rs557367346 0.00008
NM_002778.4(PSAP):c.588C>T (p.Asp196=) rs374869360 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_000487.6(ARSA):c.1077C>T (p.Asp359=) rs1047628670 0.00006
NM_000487.6(ARSA):c.1374G>A (p.Leu458=) rs752463776 0.00006
NM_000487.6(ARSA):c.1407C>T (p.Asp469=) rs764962721 0.00006
NM_000487.6(ARSA):c.195C>T (p.Tyr65=) rs764737103 0.00006
NM_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.228C>T (p.Ala76=) rs371930403 0.00006
NM_000487.6(ARSA):c.855-16G>A rs777610879 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_000487.6(ARSA):c.582C>T (p.Pro194=) rs372532763 0.00005
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) rs762811199 0.00005
NM_000487.6(ARSA):c.1006C>T (p.Leu336=) rs778950224 0.00004
NM_000487.6(ARSA):c.1095G>A (p.Leu365=) rs765842290 0.00004
NM_000487.6(ARSA):c.1107+20A>G rs775162723 0.00004
NM_000487.6(ARSA):c.1344C>T (p.Ala448=) rs757112622 0.00004
NM_000487.6(ARSA):c.297G>C (p.Arg99=) rs1024546326 0.00004
NM_000487.6(ARSA):c.466-19C>T rs371570415 0.00004
NM_000487.6(ARSA):c.588G>A (p.Leu196=) rs758643108 0.00004
NM_000487.6(ARSA):c.591C>T (p.Pro197=) rs34457249 0.00004
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_000487.6(ARSA):c.1107+9G>A rs768146306 0.00003
NM_000487.6(ARSA):c.1332G>T (p.Leu444=) rs540031338 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000487.6(ARSA):c.882C>T (p.Gly294=) rs772592144 0.00003
NM_000487.6(ARSA):c.924C>T (p.Tyr308=) rs753927253 0.00003
NM_000487.6(ARSA):c.999C>A (p.Ala333=) rs374063562 0.00003
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_000487.6(ARSA):c.1107+18del rs758769790 0.00002
NM_000487.6(ARSA):c.1125C>T (p.Leu375=) rs574444264 0.00002
NM_000487.6(ARSA):c.1211-4C>T rs770243080 0.00002
NM_000487.6(ARSA):c.12G>A (p.Gly4=) rs1160649029 0.00002
NM_000487.6(ARSA):c.1455C>T (p.Pro485=) rs903106180 0.00002
NM_000487.6(ARSA):c.222T>C (p.Ser74=) rs760597265 0.00002
NM_000487.6(ARSA):c.237G>A (p.Leu79=) rs775487397 0.00002
NM_000487.6(ARSA):c.318G>A (p.Glu106=) rs775782217 0.00002
NM_000487.6(ARSA):c.330C>T (p.Ala110=) rs976328696 0.00002
NM_000487.6(ARSA):c.465+14G>A rs766679286 0.00002
NM_000487.6(ARSA):c.466-8C>T rs765768453 0.00002
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422 0.00002
NM_000487.6(ARSA):c.513C>T (p.Asp171=) rs758695969 0.00002
NM_000487.6(ARSA):c.573G>A (p.Ala191=) rs376834935 0.00002
NM_000487.6(ARSA):c.828G>A (p.Thr276=) rs370585019 0.00002
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622 0.00002
NM_000487.6(ARSA):c.1041G>A (p.Gly347=) rs1346784797 0.00001
NM_000487.6(ARSA):c.1108-10C>G rs1285728159 0.00001
NM_000487.6(ARSA):c.1108-16_1108-15del rs779517703 0.00001
NM_000487.6(ARSA):c.1134C>T (p.Tyr378=) rs775109445 0.00001
NM_000487.6(ARSA):c.1137G>A (p.Pro379=) rs372869650 0.00001
NM_000487.6(ARSA):c.1155C>T (p.Val385=) rs149088203 0.00001
NM_000487.6(ARSA):c.1211-12C>G rs1470754621 0.00001
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.1284G>A (p.Pro428=) rs143139801 0.00001
NM_000487.6(ARSA):c.1287G>A (p.Leu429=) rs2082646305 0.00001
NM_000487.6(ARSA):c.1311T>C (p.Pro437=) rs1450339742 0.00001
NM_000487.6(ARSA):c.1359G>A (p.Glu453=) rs1240594590 0.00001
NM_000487.6(ARSA):c.1410A>T (p.Ala470=) rs762111673 0.00001
NM_000487.6(ARSA):c.1413T>C (p.Ala471=) rs1456677457 0.00001
NM_000487.6(ARSA):c.1419C>G (p.Thr473=) rs1436902786 0.00001
NM_000487.6(ARSA):c.1422C>T (p.Phe474=) rs776884597 0.00001
NM_000487.6(ARSA):c.1434G>A (p.Gln478=) rs769169905 0.00001
NM_000487.6(ARSA):c.147C>T (p.Pro49=) rs1439293576 0.00001
NM_000487.6(ARSA):c.165G>A (p.Ala55=) rs1009808245 0.00001
NM_000487.6(ARSA):c.210G>A (p.Leu70=) rs776251854 0.00001
NM_000487.6(ARSA):c.224+8G>A rs775536824 0.00001
NM_000487.6(ARSA):c.234C>T (p.Leu78=) rs1158352334 0.00001
NM_000487.6(ARSA):c.240C>T (p.Thr80=) rs767509086 0.00001
NM_000487.6(ARSA):c.252G>T (p.Pro84=) rs1469297825 0.00001
NM_000487.6(ARSA):c.270C>T (p.Tyr90=) rs780399417 0.00001
NM_000487.6(ARSA):c.273T>G (p.Pro91=) rs758790900 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000487.6(ARSA):c.27C>T (p.Leu9=) rs944621208 0.00001
NM_000487.6(ARSA):c.30C>T (p.Leu10=) rs1240234453 0.00001
NM_000487.6(ARSA):c.324C>T (p.Thr108=) rs772461835 0.00001
NM_000487.6(ARSA):c.345C>G (p.Ala115=) rs943706810 0.00001
NM_000487.6(ARSA):c.363A>G (p.Gly121=) rs766279046 0.00001
NM_000487.6(ARSA):c.429C>T (p.Phe143=) rs777372143 0.00001
NM_000487.6(ARSA):c.450G>A (p.Pro150=) rs1199634827 0.00001
NM_000487.6(ARSA):c.465+13C>T rs199767625 0.00001
NM_000487.6(ARSA):c.465+9C>T rs767722314 0.00001
NM_000487.6(ARSA):c.466-18G>A rs542689643 0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.57T>C (p.Val19=) rs1376355508 0.00001
NM_000487.6(ARSA):c.618C>T (p.Phe206=) rs370296376 0.00001
NM_000487.6(ARSA):c.639C>T (p.Asp213=) rs1266367694 0.00001
NM_000487.6(ARSA):c.642C>T (p.Ala214=) rs372713506 0.00001
NM_000487.6(ARSA):c.657C>T (p.Arg219=) rs756533260 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.66G>T (p.Pro22=) rs752921449 0.00001
NM_000487.6(ARSA):c.705C>T (p.Phe235=) rs371985225 0.00001
NM_000487.6(ARSA):c.741G>A (p.Gly247=) rs1174838208 0.00001
NM_000487.6(ARSA):c.858T>C (p.Pro286=) rs370962514 0.00001
NM_000487.6(ARSA):c.891C>T (p.Ser297=) rs770536697 0.00001
NM_000487.6(ARSA):c.90C>T (p.Ala30=) rs1182299442 0.00001
NM_000487.6(ARSA):c.963A>G (p.Pro321=) rs930585508 0.00001
NM_000487.6(ARSA):c.979+8C>T rs746862304 0.00001
NM_000487.6(ARSA):c.980-16A>G rs763589581 0.00001
NM_000487.6(ARSA):c.980-7C>T rs1401632855 0.00001
NM_000487.6(ARSA):c.990C>T (p.His330=) rs768366772 0.00001
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) rs528318545 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_000487.6(ARSA):c.1005C>A (p.Ser335=)
NM_000487.6(ARSA):c.1005C>G (p.Ser335=)
NM_000487.6(ARSA):c.1005C>T (p.Ser335=) rs745783614
NM_000487.6(ARSA):c.1011C>T (p.Asp337=) rs1490520664
NM_000487.6(ARSA):c.1015C>T (p.Leu339=)
NM_000487.6(ARSA):c.1024C>T (p.Leu342=) rs1220454918
NM_000487.6(ARSA):c.1033C>T (p.Leu345=)
NM_000487.6(ARSA):c.1035G>C (p.Leu345=) rs2146719470
NM_000487.6(ARSA):c.1044C>G (p.Ala348=)
NM_000487.6(ARSA):c.1047A>C (p.Pro349=) rs2146719351
NM_000487.6(ARSA):c.1047A>G (p.Pro349=)
NM_000487.6(ARSA):c.1050G>C (p.Leu350=)
NM_000487.6(ARSA):c.1056T>C (p.Asn352=)
NM_000487.6(ARSA):c.105T>C (p.Tyr35=) rs2146728349
NM_000487.6(ARSA):c.1068T>C (p.Asp356=) rs1490242617
NM_000487.6(ARSA):c.1071C>T (p.Gly357=)
NM_000487.6(ARSA):c.1086C>T (p.Pro362=) rs2082657800
NM_000487.6(ARSA):c.1087C>T (p.Leu363=)
NM_000487.6(ARSA):c.1089G>A (p.Leu363=)
NM_000487.6(ARSA):c.1089G>C (p.Leu363=) rs1233796816
NM_000487.6(ARSA):c.1107+10G>A rs1298177681
NM_000487.6(ARSA):c.1107+10G>C rs1298177681
NM_000487.6(ARSA):c.1107+10del rs777871462
NM_000487.6(ARSA):c.1107+12G>A
NM_000487.6(ARSA):c.1107+15C>T
NM_000487.6(ARSA):c.1107+16C>G
NM_000487.6(ARSA):c.1107+16C>T
NM_000487.6(ARSA):c.1107+19G>A
NM_000487.6(ARSA):c.1107+8C>G rs551131929
NM_000487.6(ARSA):c.1107+8C>T rs551131929
NM_000487.6(ARSA):c.1108-16C>T
NM_000487.6(ARSA):c.1108-8G>A
NM_000487.6(ARSA):c.1143C>T (p.Tyr381=)
NM_000487.6(ARSA):c.1146A>G (p.Pro382=) rs2146717855
NM_000487.6(ARSA):c.1158T>A (p.Arg386=)
NM_000487.6(ARSA):c.1173G>A (p.Val391=)
NM_000487.6(ARSA):c.1176G>A (p.Arg392=)
NM_000487.6(ARSA):c.1176G>T (p.Arg392=)
NM_000487.6(ARSA):c.1182A>C (p.Gly394=) rs2146717672
NM_000487.6(ARSA):c.1197C>T (p.His399=) rs752206330
NM_000487.6(ARSA):c.1206C>T (p.Thr402=)
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000487.6(ARSA):c.1210+14G>C
NM_000487.6(ARSA):c.1210+18A>C
NM_000487.6(ARSA):c.1210+18A>G rs372705596
NM_000487.6(ARSA):c.1210+18A>T
NM_000487.6(ARSA):c.1210+7C>T
NM_000487.6(ARSA):c.1210+8C>T rs2146717568
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1211-15T>G
NM_000487.6(ARSA):c.1211-5C>T rs778131215
NM_000487.6(ARSA):c.1211-7del rs2146717104
NM_000487.6(ARSA):c.1211-8C>T rs1203092056
NM_000487.6(ARSA):c.1211-9C>T rs1007814225
NM_000487.6(ARSA):c.1218C>G (p.Ala406=)
NM_000487.6(ARSA):c.1227T>C (p.Asp409=)
NM_000487.6(ARSA):c.1230C>T (p.Thr410=) rs2146716964
NM_000487.6(ARSA):c.1254C>T (p.Ala418=)
NM_000487.6(ARSA):c.1257C>T (p.Ser419=)
NM_000487.6(ARSA):c.1260C>T (p.Ser420=) rs1603444868
NM_000487.6(ARSA):c.126G>A (p.Gly42=)
NM_000487.6(ARSA):c.1278G>A (p.Glu426=) rs2146716622
NM_000487.6(ARSA):c.1284G>C (p.Pro428=) rs143139801
NM_000487.6(ARSA):c.1290C>T (p.Leu430=) rs2146716551
NM_000487.6(ARSA):c.1297C>T (p.Leu433=)
NM_000487.6(ARSA):c.1299G>A (p.Leu433=)
NM_000487.6(ARSA):c.1317G>A (p.Glu439=) rs2146716437
NM_000487.6(ARSA):c.1327C>T (p.Leu443=)
NM_000487.6(ARSA):c.1329G>A (p.Leu443=)
NM_000487.6(ARSA):c.1329G>T (p.Leu443=) rs758024178
NM_000487.6(ARSA):c.1330C>T (p.Leu444=)
NM_000487.6(ARSA):c.1335G>C (p.Gly445=)
NM_000487.6(ARSA):c.1335G>T (p.Gly445=)
NM_000487.6(ARSA):c.1347G>A (p.Gly449=)
NM_000487.6(ARSA):c.1347G>T (p.Gly449=)
NM_000487.6(ARSA):c.1353C>A (p.Thr451=) rs2082644571
NM_000487.6(ARSA):c.1363C>T (p.Leu455=) rs1276493346
NM_000487.6(ARSA):c.1371C>T (p.Ala457=)
NM_000487.6(ARSA):c.1374G>C (p.Leu458=)
NM_000487.6(ARSA):c.1387C>T (p.Leu463=)
NM_000487.6(ARSA):c.1389G>T (p.Leu463=) rs2146716035
NM_000487.6(ARSA):c.1398C>T (p.Ala466=)
NM_000487.6(ARSA):c.1408G>A (p.Ala470Thr)
NM_000487.6(ARSA):c.141C>G (p.Thr47=) rs2146728088
NM_000487.6(ARSA):c.1441C>A (p.Arg481=)
NM_000487.6(ARSA):c.1443G>A (p.Arg481=) rs1487999885
NM_000487.6(ARSA):c.1446C>A (p.Gly482=) rs759357711
NM_000487.6(ARSA):c.1446C>G (p.Gly482=) rs759357711
NM_000487.6(ARSA):c.1458C>T (p.Ala486=)
NM_000487.6(ARSA):c.1459C>T (p.Leu487=)
NM_000487.6(ARSA):c.1464G>A (p.Gln488=)
NM_000487.6(ARSA):c.1467C>A (p.Ile489=) rs2146715555
NM_000487.6(ARSA):c.1488C>G (p.Thr496=)
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.1500T>C (p.Ala500=) rs762056118
NM_000487.6(ARSA):c.1507C>T (p.His503Tyr)
NM_000487.6(ARSA):c.1512C>T (p.Cys504=) rs2146715350
NM_000487.6(ARSA):c.1527C>A (p.Ala509=)
NM_000487.6(ARSA):c.156C>T (p.Asp52=) rs2082699054
NM_000487.6(ARSA):c.159G>A (p.Gln53=)
NM_000487.6(ARSA):c.162G>A (p.Leu54=)
NM_000487.6(ARSA):c.168G>C (p.Ala56=) rs2146727921
NM_000487.6(ARSA):c.177G>A (p.Leu59=)
NM_000487.6(ARSA):c.178C>A (p.Arg60=)
NM_000487.6(ARSA):c.186A>G (p.Thr62=) rs2082698171
NM_000487.6(ARSA):c.189C>T (p.Asp63=)
NM_000487.6(ARSA):c.18G>A (p.Pro6=)
NM_000487.6(ARSA):c.198G>A (p.Val66=)
NM_000487.6(ARSA):c.198G>C (p.Val66=)
NM_000487.6(ARSA):c.21G>T (p.Arg7=) rs1336556041
NM_000487.6(ARSA):c.224+10G>A rs1603445022
NM_000487.6(ARSA):c.224+10G>C rs1603445022
NM_000487.6(ARSA):c.224+13C>T
NM_000487.6(ARSA):c.224+14C>T
NM_000487.6(ARSA):c.224+16C>A rs2146727447
NM_000487.6(ARSA):c.224+17G>A
NM_000487.6(ARSA):c.224+19C>T
NM_000487.6(ARSA):c.224+20T>C
NM_000487.6(ARSA):c.224+9G>A
NM_000487.6(ARSA):c.224+9G>C
NM_000487.6(ARSA):c.225-12C>T
NM_000487.6(ARSA):c.225-13A>G
NM_000487.6(ARSA):c.225-15_225-14del
NM_000487.6(ARSA):c.225-17T>C rs1019791612
NM_000487.6(ARSA):c.225-4G>T rs372937480
NM_000487.6(ARSA):c.225-9G>A rs914940978
NM_000487.6(ARSA):c.225-9G>C
NM_000487.6(ARSA):c.231C>G (p.Ala77=)
NM_000487.6(ARSA):c.252G>A (p.Pro84=)
NM_000487.6(ARSA):c.252G>C (p.Pro84=)
NM_000487.6(ARSA):c.258G>T (p.Arg86=)
NM_000487.6(ARSA):c.264C>G (p.Gly88=)
NM_000487.6(ARSA):c.276C>A (p.Gly92=)
NM_000487.6(ARSA):c.276C>T (p.Gly92=) rs978006787
NM_000487.6(ARSA):c.291C>T (p.Ser97=) rs2082691792
NM_000487.6(ARSA):c.294C>G (p.Ser98=) rs1217286631
NM_000487.6(ARSA):c.297G>A (p.Arg99=) rs1024546326
NM_000487.6(ARSA):c.300G>A (p.Gly100=)
NM_000487.6(ARSA):c.300G>C (p.Gly100=) rs1270135893
NM_000487.6(ARSA):c.300G>T (p.Gly100=) rs1270135893
NM_000487.6(ARSA):c.303C>G (p.Gly101=)
NM_000487.6(ARSA):c.306G>T (p.Leu102=) rs768799536
NM_000487.6(ARSA):c.309C>T (p.Pro103=) rs760915508
NM_000487.6(ARSA):c.310C>T (p.Leu104=) rs2146726140
NM_000487.6(ARSA):c.312G>A (p.Leu104=)
NM_000487.6(ARSA):c.327G>A (p.Val109=) rs779471096
NM_000487.6(ARSA):c.336C>T (p.Val112=) rs2146726026
NM_000487.6(ARSA):c.337C>T (p.Leu113=)
NM_000487.6(ARSA):c.339G>A (p.Leu113=)
NM_000487.6(ARSA):c.339G>T (p.Leu113=) rs755790890
NM_000487.6(ARSA):c.33G>T (p.Leu11=) rs2146728998
NM_000487.6(ARSA):c.36C>T (p.Ala12=)
NM_000487.6(ARSA):c.37C>T (p.Leu13=)
NM_000487.6(ARSA):c.387G>C (p.Gly129=) rs764180051
NM_000487.6(ARSA):c.390G>A (p.Val130=)
NM_000487.6(ARSA):c.393G>A (p.Gly131=) rs2146725697
NM_000487.6(ARSA):c.409C>T (p.Leu137=) rs2146725581
NM_000487.6(ARSA):c.414C>G (p.Pro138=) rs912206675
NM_000487.6(ARSA):c.414C>T (p.Pro138=) rs912206675
NM_000487.6(ARSA):c.417C>A (p.Pro139=) rs375898040
NM_000487.6(ARSA):c.417C>G (p.Pro139=) rs375898040
NM_000487.6(ARSA):c.417C>T (p.Pro139=) rs375898040
NM_000487.6(ARSA):c.42T>C (p.Ala14=) rs2146728922
NM_000487.6(ARSA):c.465+10A>C
NM_000487.6(ARSA):c.465+12C>T
NM_000487.6(ARSA):c.465+13C>A
NM_000487.6(ARSA):c.465+15G>A
NM_000487.6(ARSA):c.465+16G>A
NM_000487.6(ARSA):c.465+16G>T
NM_000487.6(ARSA):c.465+17C>T
NM_000487.6(ARSA):c.465+17_465+18insT
NM_000487.6(ARSA):c.465+19C>T
NM_000487.6(ARSA):c.465+20del
NM_000487.6(ARSA):c.465+8C>A rs2146724934
NM_000487.6(ARSA):c.465+8C>T rs2146724934
NM_000487.6(ARSA):c.466-11G>C
NM_000487.6(ARSA):c.466-19C>A
NM_000487.6(ARSA):c.466-5C>T rs2146724391
NM_000487.6(ARSA):c.466-7G>A rs6151414
NM_000487.6(ARSA):c.466-8C>G rs765768453
NM_000487.6(ARSA):c.477G>A (p.Gln159=)
NM_000487.6(ARSA):c.486C>T (p.Thr162=)
NM_000487.6(ARSA):c.48C>T (p.Gly16=)
NM_000487.6(ARSA):c.492C>T (p.Phe164=) rs745605987
NM_000487.6(ARSA):c.495G>T (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.49C>T (p.Leu17=) rs2146728877
NM_000487.6(ARSA):c.501C>T (p.Ala167=)
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.531C>A (p.Gly177=)
NM_000487.6(ARSA):c.537C>T (p.Val179=) rs2146723980
NM_000487.6(ARSA):c.540C>A (p.Pro180=) rs2146723960
NM_000487.6(ARSA):c.543C>T (p.Ile181=) rs2146723907
NM_000487.6(ARSA):c.54C>T (p.Ala18=) rs2146728830
NM_000487.6(ARSA):c.550T>C (p.Leu184=) rs760091071
NM_000487.6(ARSA):c.555C>T (p.Ala185=)
NM_000487.6(ARSA):c.561G>A (p.Leu187=) rs2082681709
NM_000487.6(ARSA):c.570G>A (p.Glu190=)
NM_000487.6(ARSA):c.579C>T (p.Pro193=)
NM_000487.6(ARSA):c.586C>T (p.Leu196=)
NM_000487.6(ARSA):c.588G>T (p.Leu196=) rs758643108
NM_000487.6(ARSA):c.595C>T (p.Leu199=)
NM_000487.6(ARSA):c.603C>A (p.Ala201=) rs2082680250
NM_000487.6(ARSA):c.621C>T (p.Ala207=) rs2146723331
NM_000487.6(ARSA):c.636C>G (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.645G>A (p.Gln215=) rs757515500
NM_000487.6(ARSA):c.66G>A (p.Pro22=) rs752921449
NM_000487.6(ARSA):c.66G>C (p.Pro22=) rs752921449
NM_000487.6(ARSA):c.678C>T (p.Ala226=) rs1205000954
NM_000487.6(ARSA):c.681T>C (p.Ser227=)
NM_000487.6(ARSA):c.684+10C>T
NM_000487.6(ARSA):c.684+14G>A
NM_000487.6(ARSA):c.684+15C>T
NM_000487.6(ARSA):c.684+16C>A
NM_000487.6(ARSA):c.684+18A>G
NM_000487.6(ARSA):c.684+20C>T
NM_000487.6(ARSA):c.684+9T>A
NM_000487.6(ARSA):c.685-12C>G
NM_000487.6(ARSA):c.685-14G>C
NM_000487.6(ARSA):c.685-18T>G
NM_000487.6(ARSA):c.685-4C>T rs2082676664
NM_000487.6(ARSA):c.685-5C>G
NM_000487.6(ARSA):c.685-5C>T rs2146722799
NM_000487.6(ARSA):c.685-6C>T
NM_000487.6(ARSA):c.685-9del
NM_000487.6(ARSA):c.687C>T (p.His229=) rs2146722747
NM_000487.6(ARSA):c.693C>T (p.His231=)
NM_000487.6(ARSA):c.696C>T (p.Tyr232=) rs1603444965
NM_000487.6(ARSA):c.699T>C (p.Pro233=) rs2082676297
NM_000487.6(ARSA):c.69C>G (p.Pro23=)
NM_000487.6(ARSA):c.6C>T (p.Ser2=) rs1373055038
NM_000487.6(ARSA):c.708T>C (p.Ser236=) rs2146722657
NM_000487.6(ARSA):c.717C>T (p.Ser239=) rs2146722590
NM_000487.6(ARSA):c.723A>G (p.Ala241=) rs765934724
NM_000487.6(ARSA):c.729T>C (p.Arg243=) rs1407610322
NM_000487.6(ARSA):c.735C>T (p.Gly245=) rs2146722479
NM_000487.6(ARSA):c.738C>G (p.Arg246=)
NM_000487.6(ARSA):c.738C>T (p.Arg246=) rs1477964459
NM_000487.6(ARSA):c.750G>A (p.Gly250=) rs2146722402
NM_000487.6(ARSA):c.756C>T (p.Ser252=) rs2146722384
NM_000487.6(ARSA):c.759G>A (p.Leu253=) rs1249616269
NM_000487.6(ARSA):c.768G>A (p.Leu256=) rs2146722333
NM_000487.6(ARSA):c.780G>A (p.Val260=)
NM_000487.6(ARSA):c.786C>G (p.Thr262=)
NM_000487.6(ARSA):c.786C>T (p.Thr262=)
NM_000487.6(ARSA):c.789G>C (p.Leu263=)
NM_000487.6(ARSA):c.804G>A (p.Gly268=) rs2146722165
NM_000487.6(ARSA):c.813G>A (p.Gly271=)
NM_000487.6(ARSA):c.814C>T (p.Leu272=) rs780463755
NM_000487.6(ARSA):c.829C>T (p.Leu277=) rs2082673382
NM_000487.6(ARSA):c.837C>T (p.Ile279=)
NM_000487.6(ARSA):c.849C>T (p.Asp283=) rs2146722002
NM_000487.6(ARSA):c.854+13_854+65del
NM_000487.6(ARSA):c.854+14G>A
NM_000487.6(ARSA):c.854+17G>C
NM_000487.6(ARSA):c.854+18C>T
NM_000487.6(ARSA):c.854+9G>A rs1349278805
NM_000487.6(ARSA):c.855-12C>A
NM_000487.6(ARSA):c.855-12C>T
NM_000487.6(ARSA):c.855-17C>A
NM_000487.6(ARSA):c.855-17C>T
NM_000487.6(ARSA):c.855-18G>A
NM_000487.6(ARSA):c.855-19A>G
NM_000487.6(ARSA):c.855-20dup
NM_000487.6(ARSA):c.855-4C>T rs767436029
NM_000487.6(ARSA):c.861G>A (p.Glu287=) rs2146720925
NM_000487.6(ARSA):c.864C>G (p.Thr288=) rs1184775418
NM_000487.6(ARSA):c.870T>C (p.Arg290=)
NM_000487.6(ARSA):c.891C>A (p.Ser297=)
NM_000487.6(ARSA):c.898T>C (p.Leu300=)
NM_000487.6(ARSA):c.900G>A (p.Leu300=) rs540600192
NM_000487.6(ARSA):c.909A>G (p.Gly303=) rs2146720606
NM_000487.6(ARSA):c.912G>A (p.Lys304=)
NM_000487.6(ARSA):c.927G>A (p.Glu309=) rs775875051
NM_000487.6(ARSA):c.936C>A (p.Val312=)
NM_000487.6(ARSA):c.942G>A (p.Glu314=)
NM_000487.6(ARSA):c.949T>C (p.Leu317=)
NM_000487.6(ARSA):c.951G>A (p.Leu317=)
NM_000487.6(ARSA):c.979+10C>T
NM_000487.6(ARSA):c.979+13G>C
NM_000487.6(ARSA):c.979+18C>T
NM_000487.6(ARSA):c.979+20C>A
NM_000487.6(ARSA):c.979+20C>T
NM_000487.6(ARSA):c.980-10C>T rs1486892120
NM_000487.6(ARSA):c.980-13C>T
NM_000487.6(ARSA):c.980-17C>T
NM_000487.6(ARSA):c.980-20G>A
NM_000487.6(ARSA):c.980-8G>A rs1259035524
NM_000487.6(ARSA):c.999C>T (p.Ala333=) rs374063562
NM_000487.6(ARSA):c.99C>T (p.Leu33=) rs2082700588
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) rs751199102
NM_002778.4(PSAP):c.570G>A (p.Gln190=) rs142272618
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.9739-12G>A rs200638595

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