ClinVar Miner

List of variants reported as likely benign for Intellectual disability, autosomal dominant 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 502
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.2519-20T>G rs775650772 0.01348
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) rs145808884 0.00047
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val) rs115495710 0.00029
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001378120.1(MBD5):c.2502A>C (p.Gln834His) rs147272790 0.00021
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00019
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.4963-11C>T rs147291009 0.00015
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_001378120.1(MBD5):c.217-16G>C rs377517776 0.00011
NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=) rs775314520 0.00010
NM_001378120.1(MBD5):c.1458T>C (p.Ile486=) rs144232195 0.00009
NM_001378120.1(MBD5):c.1965A>C (p.Ala655=) rs774148814 0.00009
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) rs756608508 0.00009
NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=) rs572893308 0.00007
NM_001378120.1(MBD5):c.3690A>G (p.Gly1230=) rs139379552 0.00007
NM_001378120.1(MBD5):c.4963-10C>T rs201439677 0.00007
NM_001378120.1(MBD5):c.1536C>T (p.Ser512=) rs147908860 0.00006
NM_001378120.1(MBD5):c.1999T>C (p.Leu667=) rs529715710 0.00006
NM_001378120.1(MBD5):c.267T>C (p.Asp89=) rs143333632 0.00006
NM_001378120.1(MBD5):c.3726C>T (p.Pro1242=) rs144464864 0.00006
NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln) rs368605084 0.00006
NM_001378120.1(MBD5):c.1449T>C (p.Ser483=) rs777754350 0.00005
NM_001378120.1(MBD5):c.183G>A (p.Lys61=) rs140522551 0.00005
NM_001378120.1(MBD5):c.113+4A>G rs201821636 0.00004
NM_001378120.1(MBD5):c.2148T>C (p.Ser716=) rs746698199 0.00004
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=) rs376037852 0.00004
NM_001378120.1(MBD5):c.2454G>A (p.Thr818=) rs769275989 0.00004
NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr) rs770801894 0.00004
NM_001378120.1(MBD5):c.327G>A (p.Val109=) rs760258675 0.00004
NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=) rs774912000 0.00004
NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=) rs143854410 0.00004
NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg) rs370534487 0.00004
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu) rs375158010 0.00004
NM_001378120.1(MBD5):c.397+20G>A rs201763502 0.00004
NM_001378120.1(MBD5):c.4047C>T (p.Pro1349=) rs367766748 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4161T>C (p.His1387=) rs748321288 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) rs776228346 0.00004
NM_001378120.1(MBD5):c.1074T>C (p.Leu358=) rs751940096 0.00003
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe) rs768225923 0.00003
NM_001378120.1(MBD5):c.1327G>A (p.Val443Met) rs137977565 0.00003
NM_001378120.1(MBD5):c.1367C>T (p.Ser456Leu) rs775742332 0.00003
NM_001378120.1(MBD5):c.1902A>G (p.Thr634=) rs150800810 0.00003
NM_001378120.1(MBD5):c.1962C>T (p.Asp654=) rs139953766 0.00003
NM_001378120.1(MBD5):c.2519-17T>C rs1038628491 0.00003
NM_001378120.1(MBD5):c.3603G>A (p.Ser1201=) rs138058889 0.00003
NM_001378120.1(MBD5):c.4125G>A (p.Ala1375=) rs142981321 0.00003
NM_001378120.1(MBD5):c.4215T>C (p.His1405=) rs768977000 0.00003
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) rs200245855 0.00003
NM_001378120.1(MBD5):c.4566C>T (p.His1522=) rs1354346236 0.00003
NM_001378120.1(MBD5):c.4746G>T (p.Val1582=) rs138337378 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 0.00003
NM_001378120.1(MBD5):c.4920C>T (p.Asp1640=) rs768363712 0.00003
NM_001378120.1(MBD5):c.5058T>C (p.His1686=) rs1466985995 0.00003
NM_001378120.1(MBD5):c.81T>G (p.Arg27=) rs746075256 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.943T>G (p.Cys315Gly) rs770076687 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378120.1(MBD5):c.1008A>G (p.Pro336=) rs1451243161 0.00002
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp) rs757922781 0.00002
NM_001378120.1(MBD5):c.1606C>G (p.Pro536Ala) rs748471992 0.00002
NM_001378120.1(MBD5):c.1653A>G (p.Val551=) rs765225789 0.00002
NM_001378120.1(MBD5):c.1700A>G (p.Asn567Ser) rs116095017 0.00002
NM_001378120.1(MBD5):c.1803C>T (p.Ser601=) rs772321704 0.00002
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=) rs761655364 0.00002
NM_001378120.1(MBD5):c.1920T>C (p.Gly640=) rs1031744379 0.00002
NM_001378120.1(MBD5):c.2274C>T (p.Ala758=) rs374820728 0.00002
NM_001378120.1(MBD5):c.2286C>T (p.His762=) rs370574043 0.00002
NM_001378120.1(MBD5):c.258C>T (p.Thr86=) rs542137271 0.00002
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu) rs766460176 0.00002
NM_001378120.1(MBD5):c.2678G>A (p.Gly893Asp) rs753761893 0.00002
NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg) rs935799783 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser) rs754193314 0.00002
NM_001378120.1(MBD5):c.3585A>G (p.Gln1195=) rs762160418 0.00002
NM_001378120.1(MBD5):c.3586C>G (p.Leu1196Val) rs765790042 0.00002
NM_001378120.1(MBD5):c.3924C>T (p.Leu1308=) rs146096552 0.00002
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=) rs762115057 0.00002
NM_001378120.1(MBD5):c.4306C>T (p.Pro1436Ser) rs776446296 0.00002
NM_001378120.1(MBD5):c.4351C>T (p.His1451Tyr) rs753060251 0.00002
NM_001378120.1(MBD5):c.5092C>T (p.Leu1698=) rs763196924 0.00002
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=) rs755570293 0.00002
NM_001378120.1(MBD5):c.675G>A (p.Ala225=) rs775582219 0.00002
NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu) rs766179352 0.00002
NM_001378120.1(MBD5):c.720G>A (p.Arg240=) rs727503997 0.00002
NM_001378120.1(MBD5):c.917A>G (p.Lys306Arg) rs1278028464 0.00002
NM_001378120.1(MBD5):c.936A>C (p.Lys312Asn) rs142815487 0.00002
NM_001378120.1(MBD5):c.1104A>C (p.Pro368=) rs756273559 0.00001
NM_001378120.1(MBD5):c.1128T>C (p.Ile376=) rs1680695737 0.00001
NM_001378120.1(MBD5):c.113+14A>G rs759575165 0.00001
NM_001378120.1(MBD5):c.114-19T>G rs745877259 0.00001
NM_001378120.1(MBD5):c.1147T>C (p.Ser383Pro) rs1553518530 0.00001
NM_001378120.1(MBD5):c.1194T>G (p.Pro398=) rs1559086405 0.00001
NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile) rs535000990 0.00001
NM_001378120.1(MBD5):c.1245T>C (p.Gly415=) rs1483172185 0.00001
NM_001378120.1(MBD5):c.1266T>C (p.His422=) rs371026811 0.00001
NM_001378120.1(MBD5):c.1269A>T (p.Val423=) rs746576866 0.00001
NM_001378120.1(MBD5):c.1326C>T (p.Pro442=) rs190279556 0.00001
NM_001378120.1(MBD5):c.1468C>G (p.Pro490Ala) rs1165270808 0.00001
NM_001378120.1(MBD5):c.1509A>G (p.Ser503=) rs1465502500 0.00001
NM_001378120.1(MBD5):c.1524T>A (p.Pro508=) rs773043343 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1602T>C (p.Asn534=) rs768359954 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.171T>C (p.Asp57=) rs1707126434 0.00001
NM_001378120.1(MBD5):c.1793A>G (p.Asn598Ser) rs774519380 0.00001
NM_001378120.1(MBD5):c.1884C>G (p.Ala628=) rs906942779 0.00001
NM_001378120.1(MBD5):c.195A>G (p.Glu65=) rs1480609393 0.00001
NM_001378120.1(MBD5):c.1969C>A (p.Arg657=) rs112334672 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.2004T>C (p.Ser668=) rs1451790598 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.2097T>C (p.Ser699=) rs1171949031 0.00001
NM_001378120.1(MBD5):c.211C>T (p.Pro71Ser) rs770840755 0.00001
NM_001378120.1(MBD5):c.216+15A>G rs759004187 0.00001
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe) rs1438163020 0.00001
NM_001378120.1(MBD5):c.2277G>A (p.Val759=) rs750839601 0.00001
NM_001378120.1(MBD5):c.2295C>T (p.Asn765=) rs752044751 0.00001
NM_001378120.1(MBD5):c.2304T>C (p.Phe768=) rs115385046 0.00001
NM_001378120.1(MBD5):c.24C>T (p.Asp8=) rs751181406 0.00001
NM_001378120.1(MBD5):c.2519-7A>G rs200412749 0.00001
NM_001378120.1(MBD5):c.2520C>T (p.Gly840=) rs201649831 0.00001
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met) rs756787235 0.00001
NM_001378120.1(MBD5):c.2553G>A (p.Ala851=) rs559879867 0.00001
NM_001378120.1(MBD5):c.2604C>T (p.Gly868=) rs762047043 0.00001
NM_001378120.1(MBD5):c.2647C>T (p.Leu883=) rs1378904136 0.00001
NM_001378120.1(MBD5):c.264A>G (p.Glu88=) rs1385855105 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser) rs778516851 0.00001
NM_001378120.1(MBD5):c.3545-10C>G rs1574479997 0.00001
NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=) rs968871300 0.00001
NM_001378120.1(MBD5):c.3651A>G (p.Gln1217=) rs777597807 0.00001
NM_001378120.1(MBD5):c.3753+18G>A rs768223778 0.00001
NM_001378120.1(MBD5):c.3754-6T>C rs149825755 0.00001
NM_001378120.1(MBD5):c.3762G>A (p.Met1254Ile) rs373991655 0.00001
NM_001378120.1(MBD5):c.384C>T (p.Pro128=) rs753595652 0.00001
NM_001378120.1(MBD5):c.3874T>C (p.Leu1292=) rs959320564 0.00001
NM_001378120.1(MBD5):c.3882G>A (p.Pro1294=) rs752275705 0.00001
NM_001378120.1(MBD5):c.3891C>T (p.Asp1297=) rs1359066274 0.00001
NM_001378120.1(MBD5):c.3897T>C (p.Ser1299=) rs1377963134 0.00001
NM_001378120.1(MBD5):c.3918T>C (p.Asp1306=) rs1004247100 0.00001
NM_001378120.1(MBD5):c.3927T>A (p.Val1309=) rs1574484414 0.00001
NM_001378120.1(MBD5):c.3930G>T (p.Val1310=) rs776127313 0.00001
NM_001378120.1(MBD5):c.3965A>G (p.Tyr1322Cys) rs1234231456 0.00001
NM_001378120.1(MBD5):c.397+14T>G rs376866744 0.00001
NM_001378120.1(MBD5):c.3979G>A (p.Asp1327Asn) rs752647756 0.00001
NM_001378120.1(MBD5):c.4029T>C (p.Ser1343=) rs1316838361 0.00001
NM_001378120.1(MBD5):c.4106T>C (p.Leu1369Pro) rs1406103855 0.00001
NM_001378120.1(MBD5):c.4131T>C (p.Ile1377=) rs1489981026 0.00001
NM_001378120.1(MBD5):c.4134T>C (p.His1378=) rs1051689897 0.00001
NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln) rs727503999 0.00001
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) rs1014000010 0.00001
NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys) rs571209967 0.00001
NM_001378120.1(MBD5):c.4318C>A (p.Arg1440=) rs978179634 0.00001
NM_001378120.1(MBD5):c.4335C>T (p.Tyr1445=) rs368825815 0.00001
NM_001378120.1(MBD5):c.4396A>G (p.Asn1466Asp) rs778221567 0.00001
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu) rs773267074 0.00001
NM_001378120.1(MBD5):c.4467G>T (p.Gly1489=) rs376625886 0.00001
NM_001378120.1(MBD5):c.4592G>T (p.Ser1531Ile) rs750493021 0.00001
NM_001378120.1(MBD5):c.4626G>A (p.Lys1542=) rs1467670256 0.00001
NM_001378120.1(MBD5):c.4671T>C (p.Ser1557=) rs765702142 0.00001
NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile) rs749436847 0.00001
NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=) rs1470745744 0.00001
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=) rs147744781 0.00001
NM_001378120.1(MBD5):c.4827A>C (p.Ile1609=) rs768275565 0.00001
NM_001378120.1(MBD5):c.4923C>T (p.Asp1641=) rs747736779 0.00001
NM_001378120.1(MBD5):c.4929C>T (p.His1643=) rs773406626 0.00001
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys) rs577955398 0.00001
NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=) rs761003936 0.00001
NM_001378120.1(MBD5):c.5014C>T (p.Arg1672Cys) rs767034398 0.00001
NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His) rs150519311 0.00001
NM_001378120.1(MBD5):c.502T>C (p.Phe168Leu) rs1225184691 0.00001
NM_001378120.1(MBD5):c.5113-10T>G rs775307238 0.00001
NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=) rs1057522299 0.00001
NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr) rs773716719 0.00001
NM_001378120.1(MBD5):c.549A>G (p.Val183=) rs1327901967 0.00001
NM_001378120.1(MBD5):c.573A>G (p.Gln191=) rs188689135 0.00001
NM_001378120.1(MBD5):c.580C>A (p.Leu194Ile) rs767622325 0.00001
NM_001378120.1(MBD5):c.588T>C (p.Pro196=) rs373675091 0.00001
NM_001378120.1(MBD5):c.607T>C (p.Leu203=) rs766270027 0.00001
NM_001378120.1(MBD5):c.60A>G (p.Gln20=) rs1057522537 0.00001
NM_001378120.1(MBD5):c.682G>A (p.Gly228Ser) rs1321017970 0.00001
NM_001378120.1(MBD5):c.693A>T (p.Ile231=) rs1016661590 0.00001
NM_001378120.1(MBD5):c.798T>A (p.Ile266=) rs1208664164 0.00001
NM_001378120.1(MBD5):c.974G>A (p.Arg325Gln) rs374866920 0.00001
NC_000002.11:g.(?_149216328)_(149270510_?)dup
NM_001378120.1(MBD5):c.1023A>C (p.Pro341=)
NM_001378120.1(MBD5):c.1035T>C (p.Ala345=) rs2105628565
NM_001378120.1(MBD5):c.1041G>A (p.Gln347=)
NM_001378120.1(MBD5):c.1041G>T (p.Gln347His) rs746751148
NM_001378120.1(MBD5):c.1053A>G (p.Leu351=)
NM_001378120.1(MBD5):c.1116C>T (p.Asn372=)
NM_001378120.1(MBD5):c.1117C>G (p.Pro373Ala) rs2105629390
NM_001378120.1(MBD5):c.1119T>C (p.Pro373=) rs1574459848
NM_001378120.1(MBD5):c.113+8C>A rs886054908
NM_001378120.1(MBD5):c.113+8C>T
NM_001378120.1(MBD5):c.113+9T>C
NM_001378120.1(MBD5):c.113+9T>G rs1313785203
NM_001378120.1(MBD5):c.113+9TTA[2]
NM_001378120.1(MBD5):c.1130A>G (p.Asn377Ser) rs2105629613
NM_001378120.1(MBD5):c.114-20T>G
NM_001378120.1(MBD5):c.1149A>G (p.Ser383=)
NM_001378120.1(MBD5):c.1155C>T (p.Val385=)
NM_001378120.1(MBD5):c.1170T>C (p.Pro390=)
NM_001378120.1(MBD5):c.1185C>T (p.Ser395=)
NM_001378120.1(MBD5):c.1260G>C (p.Gly420=) rs2105631059
NM_001378120.1(MBD5):c.1278T>C (p.Val426=)
NM_001378120.1(MBD5):c.1311T>A (p.Ser437=) rs1574460166
NM_001378120.1(MBD5):c.1344T>C (p.Thr448=)
NM_001378120.1(MBD5):c.1356G>A (p.Arg452=)
NM_001378120.1(MBD5):c.1365A>G (p.Ala455=)
NM_001378120.1(MBD5):c.1386A>G (p.Ser462=) rs2105632499
NM_001378120.1(MBD5):c.1388C>A (p.Ser463Tyr) rs2105632518
NM_001378120.1(MBD5):c.1392C>G (p.Ser464=)
NM_001378120.1(MBD5):c.1398A>T (p.Ser466=)
NM_001378120.1(MBD5):c.1406A>C (p.His469Pro) rs766571687
NM_001378120.1(MBD5):c.1407T>C (p.His469=) rs1365232702
NM_001378120.1(MBD5):c.1413T>C (p.Asn471=)
NM_001378120.1(MBD5):c.1443C>G (p.Ala481=)
NM_001378120.1(MBD5):c.1443C>T (p.Ala481=)
NM_001378120.1(MBD5):c.1462G>C (p.Val488Leu) rs778427674
NM_001378120.1(MBD5):c.1476_1496del (p.Ser495_Arg501del) rs1680712835
NM_001378120.1(MBD5):c.1484CAA[1] (p.Thr496del) rs1680713005
NM_001378120.1(MBD5):c.1503G>A (p.Arg501=)
NM_001378120.1(MBD5):c.1539T>C (p.Asp513=)
NM_001378120.1(MBD5):c.1551G>A (p.Gln517=) rs751801483
NM_001378120.1(MBD5):c.1563C>T (p.Ile521=) rs2105634281
NM_001378120.1(MBD5):c.1578T>A (p.Ile526=) rs2105634428
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423
NM_001378120.1(MBD5):c.1590T>C (p.Ser530=)
NM_001378120.1(MBD5):c.1593T>C (p.Asn531=)
NM_001378120.1(MBD5):c.162G>C (p.Leu54=)
NM_001378120.1(MBD5):c.1663C>G (p.Pro555Ala) rs1422887607
NM_001378120.1(MBD5):c.1674G>A (p.Leu558=)
NM_001378120.1(MBD5):c.1677A>G (p.Gly559=)
NM_001378120.1(MBD5):c.1682C>T (p.Pro561Leu) rs1680723459
NM_001378120.1(MBD5):c.1695C>A (p.Ile565=)
NM_001378120.1(MBD5):c.1710T>C (p.Asn570=)
NM_001378120.1(MBD5):c.1713T>G (p.Ala571=) rs1436943242
NM_001378120.1(MBD5):c.1735T>C (p.Leu579=) rs1229800294
NM_001378120.1(MBD5):c.1773A>G (p.Gln591=)
NM_001378120.1(MBD5):c.1818A>G (p.Gly606=) rs2105636898
NM_001378120.1(MBD5):c.1828G>T (p.Gly610Cys) rs142495834
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.1842T>C (p.Thr614=) rs1553518662
NM_001378120.1(MBD5):c.1865C>T (p.Thr622Ile) rs2105637430
NM_001378120.1(MBD5):c.1872C>T (p.Phe624=) rs540529414
NM_001378120.1(MBD5):c.189C>T (p.Gly63=) rs1707127066
NM_001378120.1(MBD5):c.18G>A (p.Glu6=)
NM_001378120.1(MBD5):c.1911G>A (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.1913A>G (p.Gln638Arg) rs1680733017
NM_001378120.1(MBD5):c.1941G>A (p.Lys647=) rs2105638169
NM_001378120.1(MBD5):c.1966T>C (p.Leu656=)
NM_001378120.1(MBD5):c.1974A>G (p.Lys658=) rs2105638538
NM_001378120.1(MBD5):c.1989T>C (p.Pro663=) rs2105638695
NM_001378120.1(MBD5):c.198T>C (p.Cys66=) rs2105571649
NM_001378120.1(MBD5):c.2108A>G (p.Gln703Arg) rs1553518707
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2115A>G (p.Leu705=) rs1680742184
NM_001378120.1(MBD5):c.2121T>C (p.Ser707=) rs377427161
NM_001378120.1(MBD5):c.2160C>G (p.Thr720=) rs1680743868
NM_001378120.1(MBD5):c.2163G>T (p.Pro721=) rs1241365384
NM_001378120.1(MBD5):c.217-18A>G
NM_001378120.1(MBD5):c.2170G>A (p.Gly724Arg) rs1553518717
NM_001378120.1(MBD5):c.2172G>A (p.Gly724=)
NM_001378120.1(MBD5):c.2175C>G (p.Ala725=)
NM_001378120.1(MBD5):c.2187T>G (p.Ala729=) rs561323622
NM_001378120.1(MBD5):c.2268G>A (p.Gly756=)
NM_001378120.1(MBD5):c.2271A>G (p.Glu757=) rs2105641334
NM_001378120.1(MBD5):c.2301C>T (p.Asn767=) rs886054910
NM_001378120.1(MBD5):c.2322A>G (p.Pro774=)
NM_001378120.1(MBD5):c.2370C>A (p.Ser790Arg) rs376037852
NM_001378120.1(MBD5):c.2373G>A (p.Gly791=) rs772842301
NM_001378120.1(MBD5):c.2373G>C (p.Gly791=)
NM_001378120.1(MBD5):c.2376C>T (p.Asn792=)
NM_001378120.1(MBD5):c.2384T>C (p.Met795Thr) rs1446479503
NM_001378120.1(MBD5):c.2388C>T (p.Leu796=)
NM_001378120.1(MBD5):c.2396C>G (p.Ser799Trp) rs759990854
NM_001378120.1(MBD5):c.2397G>A (p.Ser799=) rs2105642607
NM_001378120.1(MBD5):c.2415T>C (p.Asn805=)
NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser) rs754126406
NM_001378120.1(MBD5):c.2439G>A (p.Gln813=)
NM_001378120.1(MBD5):c.2442A>G (p.Ser814=) rs2105643173
NM_001378120.1(MBD5):c.2472A>C (p.Ile824=) rs1574462288
NM_001378120.1(MBD5):c.2508T>C (p.Ser836=)
NM_001378120.1(MBD5):c.2518+16A>G
NM_001378120.1(MBD5):c.2518+7T>A
NM_001378120.1(MBD5):c.2519-10T>C
NM_001378120.1(MBD5):c.2519-16T>G
NM_001378120.1(MBD5):c.2519-8C>T rs761957089
NM_001378120.1(MBD5):c.2519-8del rs1467351680
NM_001378120.1(MBD5):c.2526A>G (p.Ser842=)
NM_001378120.1(MBD5):c.2530C>T (p.Pro844Ser) rs1283171716
NM_001378120.1(MBD5):c.253A>C (p.Arg85=)
NM_001378120.1(MBD5):c.2541C>A (p.Ser847=) rs1574476656
NM_001378120.1(MBD5):c.2552C>T (p.Ala851Val) rs144557654
NM_001378120.1(MBD5):c.2558C>A (p.Thr853Asn) rs780490918
NM_001378120.1(MBD5):c.2559C>A (p.Thr853=) rs1681216580
NM_001378120.1(MBD5):c.2565C>T (p.His855=) rs2105071741
NM_001378120.1(MBD5):c.2577A>G (p.Thr859=) rs2105071848
NM_001378120.1(MBD5):c.2586A>C (p.Thr862=) rs1681217813
NM_001378120.1(MBD5):c.2586A>G (p.Thr862=)
NM_001378120.1(MBD5):c.2595T>A (p.Leu865=) rs2105072069
NM_001378120.1(MBD5):c.2598A>G (p.Gln866=)
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.2637G>C (p.Leu879=) rs2105072411
NM_001378120.1(MBD5):c.2646G>A (p.Gln882=)
NM_001378120.1(MBD5):c.2648T>C (p.Leu883Pro) rs1681220458
NM_001378120.1(MBD5):c.2649A>G (p.Leu883=) rs1681220561
NM_001378120.1(MBD5):c.2685G>A (p.Glu895=) rs2105072801
NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr) rs778516851
NM_001378120.1(MBD5):c.2724C>G (p.Asn908Lys) rs779824788
NM_001378120.1(MBD5):c.2727T>A (p.His909Gln) rs1681223550
NM_001378120.1(MBD5):c.2730T>C (p.Leu910=)
NM_001378120.1(MBD5):c.2740T>C (p.Leu914=)
NM_001378120.1(MBD5):c.2772C>T (p.Ile924=)
NM_001378120.1(MBD5):c.2778G>A (p.Leu926=) rs760520878
NM_001378120.1(MBD5):c.27A>T (p.Gly9=)
NM_001378120.1(MBD5):c.2814A>G (p.Leu938=)
NM_001378120.1(MBD5):c.2829G>A (p.Gln943=)
NM_001378120.1(MBD5):c.2856G>A (p.Glu952=)
NM_001378120.1(MBD5):c.2861A>G (p.Asn954Ser)
NM_001378120.1(MBD5):c.30G>A (p.Gly10=)
NM_001378120.1(MBD5):c.332C>T (p.Thr111Ile) rs1707174997
NM_001378120.1(MBD5):c.3555A>G (p.Ser1185=)
NM_001378120.1(MBD5):c.3558A>C (p.Ser1186=)
NM_001378120.1(MBD5):c.3567T>C (p.Asn1189=)
NM_001378120.1(MBD5):c.3588G>C (p.Leu1196=)
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=) rs2105093530
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=) rs138058889
NM_001378120.1(MBD5):c.3607T>C (p.Leu1203=) rs1574480161
NM_001378120.1(MBD5):c.3636T>C (p.Asn1212=)
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His) rs1465735521
NM_001378120.1(MBD5):c.3657C>T (p.Leu1219=)
NM_001378120.1(MBD5):c.3660G>A (p.Gln1220=)
NM_001378120.1(MBD5):c.3663G>A (p.Gly1221=) rs774912000
NM_001378120.1(MBD5):c.3666C>T (p.Tyr1222=) rs781114483
NM_001378120.1(MBD5):c.3675C>G (p.Leu1225=) rs1681323012
NM_001378120.1(MBD5):c.3699A>G (p.Thr1233=) rs2105094289
NM_001378120.1(MBD5):c.3707G>T (p.Cys1236Phe) rs2105094326
NM_001378120.1(MBD5):c.3714T>C (p.Ala1238=)
NM_001378120.1(MBD5):c.3747C>T (p.Asn1249=)
NM_001378120.1(MBD5):c.3753+11C>A
NM_001378120.1(MBD5):c.3753+15T>A rs1057524750
NM_001378120.1(MBD5):c.3754-15_3754-12del
NM_001378120.1(MBD5):c.3754-20T>C
NM_001378120.1(MBD5):c.3768A>G (p.Glu1256=) rs1681443066
NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys) rs771343592
NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=) rs771343592
NM_001378120.1(MBD5):c.3793A>G (p.Ile1265Val) rs774513612
NM_001378120.1(MBD5):c.3803A>C (p.Gln1268Pro) rs1559098476
NM_001378120.1(MBD5):c.3813C>T (p.Leu1271=)
NM_001378120.1(MBD5):c.3828G>A (p.Glu1276=)
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=) rs772658882
NM_001378120.1(MBD5):c.3840T>C (p.Thr1280=) rs1681446139
NM_001378120.1(MBD5):c.3864A>C (p.Thr1288=)
NM_001378120.1(MBD5):c.3894A>C (p.Pro1298=)
NM_001378120.1(MBD5):c.3906A>G (p.Gln1302=)
NM_001378120.1(MBD5):c.3920G>T (p.Gly1307Val) rs2105124889
NM_001378120.1(MBD5):c.3924C>A (p.Leu1308=)
NM_001378120.1(MBD5):c.3936C>T (p.Gly1312=)
NM_001378120.1(MBD5):c.3959C>T (p.Ala1320Val) rs1479424507
NM_001378120.1(MBD5):c.3963T>C (p.Ile1321=) rs2105125356
NM_001378120.1(MBD5):c.397+10A>G
NM_001378120.1(MBD5):c.397+10A>T rs2105582849
NM_001378120.1(MBD5):c.397+8A>G
NM_001378120.1(MBD5):c.398-11T>C
NM_001378120.1(MBD5):c.398-18T>C
NM_001378120.1(MBD5):c.398-5A>G
NM_001378120.1(MBD5):c.398-9T>C
NM_001378120.1(MBD5):c.3988A>G (p.Ser1330Gly) rs753239849
NM_001378120.1(MBD5):c.4002G>A (p.Gln1334=)
NM_001378120.1(MBD5):c.4017T>C (p.Thr1339=) rs2105125745
NM_001378120.1(MBD5):c.4020A>G (p.Ala1340=) rs1273991401
NM_001378120.1(MBD5):c.4032A>C (p.Thr1344=)
NM_001378120.1(MBD5):c.4055C>T (p.Ala1352Val) rs1574484641
NM_001378120.1(MBD5):c.4083C>T (p.Ala1361=) rs2105126139
NM_001378120.1(MBD5):c.4098A>G (p.Pro1366=) rs2105126312
NM_001378120.1(MBD5):c.4116T>C (p.Ala1372=)
NM_001378120.1(MBD5):c.4122T>C (p.Ser1374=) rs2105126495
NM_001378120.1(MBD5):c.4127T>A (p.Val1376Asp) rs1227323118
NM_001378120.1(MBD5):c.4134T>G (p.His1378Gln) rs1051689897
NM_001378120.1(MBD5):c.4159C>A (p.His1387Asn) rs2105127038
NM_001378120.1(MBD5):c.4170G>A (p.Arg1390=) rs1312513915
NM_001378120.1(MBD5):c.417T>C (p.Pro139=)
NM_001378120.1(MBD5):c.4183A>C (p.Arg1395=)
NM_001378120.1(MBD5):c.4188G>A (p.Gly1396=) rs1443120715
NM_001378120.1(MBD5):c.4194G>A (p.Arg1398=) rs2105127403
NM_001378120.1(MBD5):c.4209A>G (p.Leu1403=)
NM_001378120.1(MBD5):c.4230C>T (p.Asn1410=)
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378120.1(MBD5):c.4275A>C (p.Thr1425=)
NM_001378120.1(MBD5):c.4293C>T (p.Asp1431=)
NM_001378120.1(MBD5):c.4294G>C (p.Gly1432Arg) rs201334086
NM_001378120.1(MBD5):c.4296G>A (p.Gly1432=)
NM_001378120.1(MBD5):c.4296G>C (p.Gly1432=) rs746043647
NM_001378120.1(MBD5):c.4326G>A (p.Arg1442=) rs766189023
NM_001378120.1(MBD5):c.4347A>G (p.Leu1449=) rs2105128674
NM_001378120.1(MBD5):c.4359C>G (p.Gly1453=)
NM_001378120.1(MBD5):c.4410G>A (p.Leu1470=)
NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=) rs748173028
NM_001378120.1(MBD5):c.4441C>T (p.Leu1481=)
NM_001378120.1(MBD5):c.4446A>G (p.Leu1482=)
NM_001378120.1(MBD5):c.4464A>G (p.Pro1488=) rs2105129699
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser) rs762922278
NM_001378120.1(MBD5):c.4494G>A (p.Arg1498=)
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val) rs898923113
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=) rs1681478303
NM_001378120.1(MBD5):c.457C>T (p.His153Tyr) rs2105622546
NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=) rs1055672536
NM_001378120.1(MBD5):c.4589A>G (p.Gln1530Arg) rs1681479202
NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=) rs1057521419
NM_001378120.1(MBD5):c.4596G>A (p.Arg1532=) rs2105130693
NM_001378120.1(MBD5):c.459T>C (p.His153=)
NM_001378120.1(MBD5):c.4623A>G (p.Ala1541=) rs1574485595
NM_001378120.1(MBD5):c.4634T>C (p.Leu1545Pro) rs1474107442
NM_001378120.1(MBD5):c.4641A>G (p.Leu1547=)
NM_001378120.1(MBD5):c.4644G>A (p.Glu1548=)
NM_001378120.1(MBD5):c.4647G>A (p.Glu1549=)
NM_001378120.1(MBD5):c.4718T>G (p.Phe1573Cys) rs1406467148
NM_001378120.1(MBD5):c.4722T>C (p.Asn1574=)
NM_001378120.1(MBD5):c.4733T>G (p.Val1578Gly) rs1681484970
NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=) rs1057523104
NM_001378120.1(MBD5):c.477T>C (p.Ser159=) rs2105622763
NM_001378120.1(MBD5):c.4800A>G (p.Pro1600=) rs1553520655
NM_001378120.1(MBD5):c.4845G>A (p.Thr1615=) rs759890387
NM_001378120.1(MBD5):c.4878C>T (p.Ile1626=)
NM_001378120.1(MBD5):c.4889C>A (p.Thr1630Asn) rs2105133001
NM_001378120.1(MBD5):c.4890T>C (p.Thr1630=)
NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4950C>G (p.Pro1650=) rs148394839
NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=) rs148394839
NM_001378120.1(MBD5):c.4962+7C>T
NM_001378120.1(MBD5):c.4963-5C>T
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=) rs1057521520
NM_001378120.1(MBD5):c.5007C>T (p.Ala1669=) rs2105226035
NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=) rs1057523158
NM_001378120.1(MBD5):c.5025A>G (p.Lys1675=) rs1574497842
NM_001378120.1(MBD5):c.5033G>T (p.Arg1678Ile) rs749723920
NM_001378120.1(MBD5):c.5036+8del
NM_001378120.1(MBD5):c.5037-11A>G
NM_001378120.1(MBD5):c.5037-12C>T
NM_001378120.1(MBD5):c.5037-19T>G
NM_001378120.1(MBD5):c.5049A>C (p.Leu1683=)
NM_001378120.1(MBD5):c.504C>A (p.Phe168Leu) rs2105622881
NM_001378120.1(MBD5):c.5073T>A (p.Ile1691=)
NM_001378120.1(MBD5):c.5079G>A (p.Glu1693=)
NM_001378120.1(MBD5):c.5109G>A (p.Gly1703=)
NM_001378120.1(MBD5):c.5112+11T>G rs2105278869
NM_001378120.1(MBD5):c.5113-16A>G
NM_001378120.1(MBD5):c.5113-18C>T
NM_001378120.1(MBD5):c.5151C>T (p.Pro1717=)
NM_001378120.1(MBD5):c.516T>C (p.Ile172=)
NM_001378120.1(MBD5):c.5181A>G (p.Arg1727=)
NM_001378120.1(MBD5):c.528T>C (p.Asn176=) rs1574458750
NM_001378120.1(MBD5):c.531C>T (p.Ala177=) rs2105623085
NM_001378120.1(MBD5):c.537A>G (p.Gly179=) rs1204024575
NM_001378120.1(MBD5):c.539G>A (p.Arg180Lys) rs1680666184
NM_001378120.1(MBD5):c.541C>T (p.Leu181=)
NM_001378120.1(MBD5):c.543A>G (p.Leu181=)
NM_001378120.1(MBD5):c.589G>T (p.Val197Phe) rs760892595
NM_001378120.1(MBD5):c.591C>G (p.Val197=)
NM_001378120.1(MBD5):c.599G>T (p.Arg200Leu) rs149278000
NM_001378120.1(MBD5):c.603G>A (p.Gln201=)
NM_001378120.1(MBD5):c.606A>T (p.Arg202Ser) rs1553518446
NM_001378120.1(MBD5):c.633A>G (p.Lys211=)
NM_001378120.1(MBD5):c.638C>T (p.Pro213Leu) rs755861220
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.648C>A (p.Gly216=) rs1188063685
NM_001378120.1(MBD5):c.654T>C (p.His218=) rs1353208243
NM_001378120.1(MBD5):c.666C>T (p.Pro222=) rs1349108004
NM_001378120.1(MBD5):c.66T>C (p.Pro22=)
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser) rs1680672685
NM_001378120.1(MBD5):c.696T>C (p.Tyr232=)
NM_001378120.1(MBD5):c.774T>C (p.His258=)
NM_001378120.1(MBD5):c.798T>C (p.Ile266=) rs1208664164
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr) rs768720064
NM_001378120.1(MBD5):c.81T>C (p.Arg27=) rs746075256
NM_001378120.1(MBD5):c.825A>G (p.Pro275=)
NM_001378120.1(MBD5):c.840A>G (p.Leu280=) rs2105626382
NM_001378120.1(MBD5):c.864C>G (p.Ser288=)
NM_001378120.1(MBD5):c.869C>G (p.Ala290Gly) rs1559085941
NM_001378120.1(MBD5):c.900C>T (p.Ser300=) rs2105626982
NM_001378120.1(MBD5):c.912T>A (p.Thr304=)
NM_001378120.1(MBD5):c.924A>C (p.Pro308=) rs778385281
NM_001378120.1(MBD5):c.939A>G (p.Pro313=) rs781250091
NM_001378120.1(MBD5):c.941T>C (p.Met314Thr) rs1168673827
NM_001378120.1(MBD5):c.987C>T (p.His329=) rs1574459598

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