ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis type 7 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 347
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538 0.00045
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327 0.00022
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00022
NM_000181.4(GUSB):c.397-9del rs1362952478 0.00019
NM_000181.4(GUSB):c.54C>T (p.Gly18=) rs759514074 0.00017
NM_000181.4(GUSB):c.1020G>A (p.Gly340=) rs372851133 0.00016
NM_000181.4(GUSB):c.147C>T (p.Ala49=) rs375940373 0.00016
NM_000181.4(GUSB):c.933G>A (p.Thr311=) rs188921177 0.00013
NM_000181.4(GUSB):c.725-11G>A rs1057205332 0.00012
NM_000181.4(GUSB):c.447C>T (p.Phe149=) rs148364905 0.00011
NM_000181.4(GUSB):c.211-8C>G rs2293340 0.00010
NM_000181.4(GUSB):c.582-17C>T rs760650363 0.00010
NM_000181.4(GUSB):c.1244+17C>T rs199587731 0.00009
NM_000181.4(GUSB):c.202C>T (p.Leu68=) rs746199104 0.00009
NM_000181.4(GUSB):c.211-18C>T rs774828816 0.00008
NM_000181.4(GUSB):c.1083C>T (p.Phe361=) rs139976112 0.00007
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr) rs752854143 0.00007
NM_000181.4(GUSB):c.1066-5C>T rs376501876 0.00006
NM_000181.4(GUSB):c.807C>T (p.Val269=) rs571704452 0.00006
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00005
NM_000181.4(GUSB):c.1137C>T (p.Asn379=) rs371271170 0.00005
NM_000181.4(GUSB):c.408G>A (p.Gly136=) rs1489166272 0.00005
NM_000181.4(GUSB):c.813G>A (p.Ala271=) rs150999162 0.00005
NM_000181.4(GUSB):c.828C>T (p.Thr276=) rs758263587 0.00005
NM_000181.4(GUSB):c.937C>T (p.Leu313=) rs769871779 0.00005
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00005
NM_000181.4(GUSB):c.1044C>T (p.Val348=) rs147820162 0.00004
NM_000181.4(GUSB):c.1485T>C (p.Tyr495=) rs1333588701 0.00004
NM_000181.4(GUSB):c.1789+9C>T rs545446158 0.00004
NM_000181.4(GUSB):c.324G>A (p.Pro108=) rs546131174 0.00004
NM_000181.4(GUSB):c.396+9G>A rs772262663 0.00004
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900 0.00004
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648 0.00003
NM_000181.4(GUSB):c.1066-16C>T rs758677498 0.00003
NM_000181.4(GUSB):c.1167A>G (p.Ala389=) rs757058191 0.00003
NM_000181.4(GUSB):c.1224C>T (p.Pro408=) rs757418833 0.00003
NM_000181.4(GUSB):c.1470C>T (p.Asp490=) rs143084006 0.00003
NM_000181.4(GUSB):c.1857G>A (p.Ala619=) rs779147312 0.00003
NM_000181.4(GUSB):c.210+20C>T rs377626207 0.00003
NM_000181.4(GUSB):c.444C>T (p.Pro148=) rs956058239 0.00003
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102 0.00003
NM_000181.4(GUSB):c.6C>G (p.Ala2=) rs758903707 0.00003
NM_000181.4(GUSB):c.1065+18G>A rs1316440875 0.00002
NM_000181.4(GUSB):c.1227C>T (p.Gly409=) rs777871501 0.00002
NM_000181.4(GUSB):c.1244+15T>C rs777787457 0.00002
NM_000181.4(GUSB):c.1245-5C>T rs370769242 0.00002
NM_000181.4(GUSB):c.1323C>T (p.Pro441=) rs368144710 0.00002
NM_000181.4(GUSB):c.1350C>T (p.Asn450=) rs376567545 0.00002
NM_000181.4(GUSB):c.1533C>T (p.Tyr511=) rs752845837 0.00002
NM_000181.4(GUSB):c.1635G>A (p.Thr545=) rs761204529 0.00002
NM_000181.4(GUSB):c.1654-4C>T rs563449417 0.00002
NM_000181.4(GUSB):c.210+13G>A rs1040637134 0.00002
NM_000181.4(GUSB):c.211-20C>G rs568097786 0.00002
NM_000181.4(GUSB):c.303C>T (p.Tyr101=) rs768778881 0.00002
NM_000181.4(GUSB):c.397-19G>A rs759668020 0.00002
NM_000181.4(GUSB):c.420A>C (p.Leu140=) rs754452177 0.00002
NM_000181.4(GUSB):c.75C>T (p.Gly25=) rs1282036764 0.00002
NM_000181.4(GUSB):c.913-17T>C rs1355123264 0.00002
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911 0.00001
NM_000181.4(GUSB):c.1038C>T (p.His346=) rs773187021 0.00001
NM_000181.4(GUSB):c.105G>C (p.Ser35=) rs758743865 0.00001
NM_000181.4(GUSB):c.1065+11G>A rs756639453 0.00001
NM_000181.4(GUSB):c.1066-9A>G rs765500679 0.00001
NM_000181.4(GUSB):c.1092G>A (p.Pro364=) rs759063684 0.00001
NM_000181.4(GUSB):c.1116G>A (p.Leu372=) rs778654745 0.00001
NM_000181.4(GUSB):c.1134C>T (p.Ala378=) rs374755881 0.00001
NM_000181.4(GUSB):c.1182G>A (p.Gln394=) rs369190724 0.00001
NM_000181.4(GUSB):c.120G>A (p.Glu40=) rs1236387993 0.00001
NM_000181.4(GUSB):c.1212C>T (p.Ile404=) rs375214425 0.00001
NM_000181.4(GUSB):c.1244+16G>A rs772851630 0.00001
NM_000181.4(GUSB):c.1244+19C>T rs925844481 0.00001
NM_000181.4(GUSB):c.1245-14C>T rs539361188 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.1275C>T (p.His425=) rs748423878 0.00001
NM_000181.4(GUSB):c.1326G>A (p.Ala442=) rs1226319325 0.00001
NM_000181.4(GUSB):c.1391+11C>T rs1281796192 0.00001
NM_000181.4(GUSB):c.1401C>T (p.Ile467=) rs764344489 0.00001
NM_000181.4(GUSB):c.1476+13G>T rs765708408 0.00001
NM_000181.4(GUSB):c.1476+15C>T rs879074261 0.00001
NM_000181.4(GUSB):c.1476+18C>T rs946592201 0.00001
NM_000181.4(GUSB):c.1515C>T (p.Tyr505=) rs746198220 0.00001
NM_000181.4(GUSB):c.1530C>T (p.Asp510=) rs981387734 0.00001
NM_000181.4(GUSB):c.1623T>C (p.Tyr541=) rs769788461 0.00001
NM_000181.4(GUSB):c.1653+17T>C rs749695052 0.00001
NM_000181.4(GUSB):c.1654-10T>C rs776105120 0.00001
NM_000181.4(GUSB):c.1654-14G>T rs761874655 0.00001
NM_000181.4(GUSB):c.177C>T (p.Phe59=) rs1258479116 0.00001
NM_000181.4(GUSB):c.1790-18T>C rs763997663 0.00001
NM_000181.4(GUSB):c.1790-20T>A rs1165609185 0.00001
NM_000181.4(GUSB):c.1791A>G (p.Ser597=) rs767115386 0.00001
NM_000181.4(GUSB):c.1794G>A (p.Pro598=) rs751161248 0.00001
NM_000181.4(GUSB):c.1797G>A (p.Thr599=) rs552724524 0.00001
NM_000181.4(GUSB):c.180G>A (p.Glu60=) rs1306112081 0.00001
NM_000181.4(GUSB):c.1854A>G (p.Ala618=) rs1372686758 0.00001
NM_000181.4(GUSB):c.1929A>G (p.Gln643=) rs764493374 0.00001
NM_000181.4(GUSB):c.192C>T (p.Tyr64=) rs879696482 0.00001
NM_000181.4(GUSB):c.1945C>T (p.Leu649=) rs772478693 0.00001
NM_000181.4(GUSB):c.201G>T (p.Pro67=) rs551892631 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.210+16A>C rs1256237207 0.00001
NM_000181.4(GUSB):c.211-17G>A rs749802416 0.00001
NM_000181.4(GUSB):c.288C>T (p.Val96=) rs773646634 0.00001
NM_000181.4(GUSB):c.297G>A (p.Val99=) rs1027871667 0.00001
NM_000181.4(GUSB):c.309G>A (p.Arg103=) rs1372923780 0.00001
NM_000181.4(GUSB):c.30G>A (p.Ala10=) rs1405881172 0.00001
NM_000181.4(GUSB):c.396+14G>A rs778571503 0.00001
NM_000181.4(GUSB):c.396+15G>T rs757135258 0.00001
NM_000181.4(GUSB):c.411C>T (p.Val137=) rs141441283 0.00001
NM_000181.4(GUSB):c.414C>T (p.Asp138=) rs1444763456 0.00001
NM_000181.4(GUSB):c.417G>A (p.Thr139=) rs1791874209 0.00001
NM_000181.4(GUSB):c.456C>T (p.Asp152=) rs1420034681 0.00001
NM_000181.4(GUSB):c.484C>T (p.Leu162=) rs1395188248 0.00001
NM_000181.4(GUSB):c.492C>T (p.Ser164=) rs759593913 0.00001
NM_000181.4(GUSB):c.501A>C (p.Arg167=) rs1276640900 0.00001
NM_000181.4(GUSB):c.525A>G (p.Thr175=) rs1260639409 0.00001
NM_000181.4(GUSB):c.570T>C (p.Thr190=) rs763253448 0.00001
NM_000181.4(GUSB):c.581+16C>T rs768612200 0.00001
NM_000181.4(GUSB):c.581+8C>T rs527730129 0.00001
NM_000181.4(GUSB):c.582-15G>A rs554216436 0.00001
NM_000181.4(GUSB):c.582-19C>G rs763864387 0.00001
NM_000181.4(GUSB):c.60G>A (p.Ala20=) rs969297480 0.00001
NM_000181.4(GUSB):c.612A>G (p.Thr204=) rs781604428 0.00001
NM_000181.4(GUSB):c.621C>T (p.Asp207=) rs1416000225 0.00001
NM_000181.4(GUSB):c.666G>A (p.Thr222=) rs773822519 0.00001
NM_000181.4(GUSB):c.669A>T (p.Thr223=) rs201178083 0.00001
NM_000181.4(GUSB):c.681C>T (p.Tyr227=) rs1791831745 0.00001
NM_000181.4(GUSB):c.696C>T (p.Thr232=) rs779124500 0.00001
NM_000181.4(GUSB):c.708C>T (p.Ser236=) rs777822251 0.00001
NM_000181.4(GUSB):c.725-4G>A rs2484815549 0.00001
NM_000181.4(GUSB):c.727C>T (p.Leu243=) rs2484815474 0.00001
NM_000181.4(GUSB):c.861C>T (p.Leu287=) rs753430922 0.00001
NM_000181.4(GUSB):c.870G>A (p.Pro290=) rs377665214 0.00001
NM_000181.4(GUSB):c.906A>G (p.Ser302=) rs1048020478 0.00001
NM_000181.4(GUSB):c.907T>C (p.Leu303=) rs569297611 0.00001
NM_000181.4(GUSB):c.912+18C>G rs778872193 0.00001
NM_000181.4(GUSB):c.912+19A>G rs757284086 0.00001
NM_000181.4(GUSB):c.948G>A (p.Val316=) rs1791475630 0.00001
NM_000181.4(GUSB):c.954C>T (p.Asp318=) rs2484806510 0.00001
NM_000181.4(GUSB):c.960C>T (p.Tyr320=) rs1338584824 0.00001
NM_000181.4(GUSB):c.9G>T (p.Arg3=) rs757357472 0.00001
NM_000181.4(GUSB):c.1002C>T (p.Ser334=) rs1166045525
NM_000181.4(GUSB):c.1026T>G (p.Pro342=) rs1562687044
NM_000181.4(GUSB):c.102G>T (p.Pro34=)
NM_000181.4(GUSB):c.1056G>A (p.Glu352=) rs200412277
NM_000181.4(GUSB):c.1066-11C>T rs980469778
NM_000181.4(GUSB):c.1066-20T>C rs1791448938
NM_000181.4(GUSB):c.1066-4del rs2484803677
NM_000181.4(GUSB):c.1066-6T>C rs753687921
NM_000181.4(GUSB):c.1066-6_1066-5del rs1341580615
NM_000181.4(GUSB):c.1066-7C>A rs761474178
NM_000181.4(GUSB):c.1077G>A (p.Lys359=) rs1791445667
NM_000181.4(GUSB):c.1096C>T (p.Leu366=) rs535768789
NM_000181.4(GUSB):c.1098G>A (p.Leu366=) rs1156491647
NM_000181.4(GUSB):c.1119T>G (p.Leu373=) rs2484803105
NM_000181.4(GUSB):c.111G>A (p.Glu37=) rs746254536
NM_000181.4(GUSB):c.1143C>T (p.Phe381=) rs1583922237
NM_000181.4(GUSB):c.1149C>A (p.Thr383=) rs1250793520
NM_000181.4(GUSB):c.1149C>T (p.Thr383=) rs1250793520
NM_000181.4(GUSB):c.114C>T (p.Cys38=) rs952039719
NM_000181.4(GUSB):c.1161C>G (p.Pro387=) rs1791437300
NM_000181.4(GUSB):c.1161C>T (p.Pro387=)
NM_000181.4(GUSB):c.1167A>C (p.Ala389=) rs757058191
NM_000181.4(GUSB):c.117G>A (p.Lys39=) rs2484857910
NM_000181.4(GUSB):c.1215T>C (p.Asp405=)
NM_000181.4(GUSB):c.1230G>C (p.Val410=) rs2484801860
NM_000181.4(GUSB):c.1239G>A (p.Ala413=) rs767396235
NM_000181.4(GUSB):c.1244+20C>G rs2484801529
NM_000181.4(GUSB):c.1245-11C>T rs753108318
NM_000181.4(GUSB):c.1245-13T>A
NM_000181.4(GUSB):c.1245-19C>A rs995961802
NM_000181.4(GUSB):c.1245-19C>T rs995961802
NM_000181.4(GUSB):c.1245-8G>A rs2484800981
NM_000181.4(GUSB):c.129C>A (p.Gly43=) rs1318093221
NM_000181.4(GUSB):c.12G>A (p.Gly4=) rs753976305
NM_000181.4(GUSB):c.1320C>T (p.His440=) rs1235958649
NM_000181.4(GUSB):c.1326G>C (p.Ala442=) rs1226319325
NM_000181.4(GUSB):c.1326G>T (p.Ala442=)
NM_000181.4(GUSB):c.1341T>C (p.Ser447=) rs1313496179
NM_000181.4(GUSB):c.1344G>A (p.Val448=)
NM_000181.4(GUSB):c.1356T>C (p.Pro452=) rs1321970104
NM_000181.4(GUSB):c.1374T>C (p.Ser458=) rs1423322372
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=) rs776791543
NM_000181.4(GUSB):c.138C>T (p.Ser46=) rs764321712
NM_000181.4(GUSB):c.1391+12C>T rs2484799330
NM_000181.4(GUSB):c.1391+13T>G rs2484799319
NM_000181.4(GUSB):c.1391+14C>T rs2115948796
NM_000181.4(GUSB):c.1391+17T>C rs1304263543
NM_000181.4(GUSB):c.1391+18G>C rs1791408351
NM_000181.4(GUSB):c.1391+19C>T
NM_000181.4(GUSB):c.1392-12T>C rs2484779870
NM_000181.4(GUSB):c.1392-14C>T rs2484779902
NM_000181.4(GUSB):c.1392-18T>C
NM_000181.4(GUSB):c.1401C>A (p.Ile467=) rs764344489
NM_000181.4(GUSB):c.1417T>C (p.Leu473=) rs1791110203
NM_000181.4(GUSB):c.141C>T (p.Phe47=) rs1437874724
NM_000181.4(GUSB):c.1425C>T (p.Pro475=) rs1791109537
NM_000181.4(GUSB):c.1431G>A (p.Arg477=) rs748788618
NM_000181.4(GUSB):c.1431G>T (p.Arg477=) rs748788618
NM_000181.4(GUSB):c.1455T>C (p.Ser485=) rs2484778977
NM_000181.4(GUSB):c.1476+10G>A rs758718116
NM_000181.4(GUSB):c.1476+16C>T rs2484778528
NM_000181.4(GUSB):c.1476+18C>A rs946592201
NM_000181.4(GUSB):c.1476+20C>A rs757800621
NM_000181.4(GUSB):c.1476+20C>T rs757800621
NM_000181.4(GUSB):c.1477-16G>T rs1790942611
NM_000181.4(GUSB):c.1477-18C>T rs777838133
NM_000181.4(GUSB):c.1477-5C>T rs1261736093
NM_000181.4(GUSB):c.1477-9T>C rs1790942050
NM_000181.4(GUSB):c.1506C>T (p.Asn502=) rs1159683641
NM_000181.4(GUSB):c.1509C>T (p.Ser503=) rs2484765658
NM_000181.4(GUSB):c.1527C>T (p.His509=) rs201928248
NM_000181.4(GUSB):c.1536G>A (p.Gly512=) rs1282778009
NM_000181.4(GUSB):c.1581C>T (p.Asn527=) rs2484764815
NM_000181.4(GUSB):c.15G>A (p.Ser5=) rs1285511679
NM_000181.4(GUSB):c.1602G>A (p.Lys534=) rs1161170731
NM_000181.4(GUSB):c.1605C>T (p.Pro535=) rs762859080
NM_000181.4(GUSB):c.1644G>A (p.Gly548=) rs776242697
NM_000181.4(GUSB):c.1653+15G>A rs1790927145
NM_000181.4(GUSB):c.1653+20C>T
NM_000181.4(GUSB):c.1654-10T>G rs776105120
NM_000181.4(GUSB):c.1654-11T>C rs1790700977
NM_000181.4(GUSB):c.1654-12C>G rs1268354062
NM_000181.4(GUSB):c.1654-12C>T rs1268354062
NM_000181.4(GUSB):c.1654-13_1654-9del
NM_000181.4(GUSB):c.1654-14G>A rs761874655
NM_000181.4(GUSB):c.1654-9G>A rs1790700569
NM_000181.4(GUSB):c.1663C>T (p.Leu555=) rs775084641
NM_000181.4(GUSB):c.1704G>A (p.Gln568=) rs1287239412
NM_000181.4(GUSB):c.1770C>T (p.Ala590=) rs200228580
NM_000181.4(GUSB):c.1782T>C (p.Thr594=) rs1459112993
NM_000181.4(GUSB):c.1782T>G (p.Thr594=) rs1459112993
NM_000181.4(GUSB):c.1785A>G (p.Glu595=)
NM_000181.4(GUSB):c.1789+10A>C rs1386704925
NM_000181.4(GUSB):c.1789+17C>T
NM_000181.4(GUSB):c.1789+19C>T
NM_000181.4(GUSB):c.1790-11T>C rs756087154
NM_000181.4(GUSB):c.1790-11T>G rs756087154
NM_000181.4(GUSB):c.1790-21_1790-20del rs2484734883
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1804C>T (p.Leu602=) rs1790456990
NM_000181.4(GUSB):c.1809G>A (p.Gly603=) rs1790456341
NM_000181.4(GUSB):c.1857G>C (p.Ala619=) rs779147312
NM_000181.4(GUSB):c.1896A>G (p.Glu632=) rs1249207867
NM_000181.4(GUSB):c.18G>A (p.Ala6=) rs913766105
NM_000181.4(GUSB):c.18G>C (p.Ala6=) rs913766105
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=) rs2484733253
NM_000181.4(GUSB):c.1911C>T (p.His637=) rs1790445095
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1926A>G (p.Ser642=) rs2484733147
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
NM_000181.4(GUSB):c.204G>A (p.Leu68=)
NM_000181.4(GUSB):c.211-15C>T rs1562696779
NM_000181.4(GUSB):c.211-16G>A rs2484847372
NM_000181.4(GUSB):c.211-17G>C rs749802416
NM_000181.4(GUSB):c.211-18C>G rs774828816
NM_000181.4(GUSB):c.211-20C>T rs568097786
NM_000181.4(GUSB):c.211-7T>C rs1299733589
NM_000181.4(GUSB):c.222C>G (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.240C>T (p.Pro80=) rs1203231859
NM_000181.4(GUSB):c.24C>T (p.Ala8=) rs2484858968
NM_000181.4(GUSB):c.252T>C (p.Asn84=) rs2484846650
NM_000181.4(GUSB):c.306A>G (p.Glu102=) rs2116042007
NM_000181.4(GUSB):c.315G>T (p.Val105=)
NM_000181.4(GUSB):c.342C>T (p.Asp114=) rs2116041185
NM_000181.4(GUSB):c.366G>A (p.Arg122=) rs1583946993
NM_000181.4(GUSB):c.36C>T (p.Leu12=) rs1032355412
NM_000181.4(GUSB):c.390C>T (p.Ala130=) rs2484845325
NM_000181.4(GUSB):c.393C>T (p.Ile131=) rs1452631377
NM_000181.4(GUSB):c.396+13A>G rs2484845078
NM_000181.4(GUSB):c.396+15G>C rs757135258
NM_000181.4(GUSB):c.396+17G>A rs1420400985
NM_000181.4(GUSB):c.396+8C>T rs775565879
NM_000181.4(GUSB):c.397-10G>A rs774576359
NM_000181.4(GUSB):c.397-10G>C rs774576359
NM_000181.4(GUSB):c.397-15C>T rs2484842342
NM_000181.4(GUSB):c.397-19G>T rs759668020
NM_000181.4(GUSB):c.429G>A (p.Glu143=) rs375740757
NM_000181.4(GUSB):c.42G>T (p.Pro14=) rs1792076511
NM_000181.4(GUSB):c.438C>T (p.Tyr146=)
NM_000181.4(GUSB):c.450G>A (p.Glu150=)
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.453C>T (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.462C>T (p.Ser154=) rs1791869458
NM_000181.4(GUSB):c.466C>T (p.Leu156=) rs1410086265
NM_000181.4(GUSB):c.486G>A (p.Leu162=) rs1791867561
NM_000181.4(GUSB):c.48G>A (p.Leu16=) rs2484858647
NM_000181.4(GUSB):c.552G>A (p.Gly184=) rs768029322
NM_000181.4(GUSB):c.555C>G (p.Thr185=) rs2484840539
NM_000181.4(GUSB):c.555C>T (p.Thr185=) rs2484840539
NM_000181.4(GUSB):c.581+10A>G rs1233559582
NM_000181.4(GUSB):c.581+12C>G rs1297851058
NM_000181.4(GUSB):c.581+17C>T rs2484840220
NM_000181.4(GUSB):c.581+20C>T rs2484840192
NM_000181.4(GUSB):c.581+8C>G rs527730129
NM_000181.4(GUSB):c.582-12C>G rs772006853
NM_000181.4(GUSB):c.582-12C>T rs772006853
NM_000181.4(GUSB):c.582-20C>G rs1791843574
NM_000181.4(GUSB):c.582-6T>C
NM_000181.4(GUSB):c.582-7A>C rs745342555
NM_000181.4(GUSB):c.582-9C>T rs2484838870
NM_000181.4(GUSB):c.615T>C (p.Tyr205=) rs2484838457
NM_000181.4(GUSB):c.639A>G (p.Gly213=) rs2484838258
NM_000181.4(GUSB):c.657T>G (p.Leu219=) rs764393614
NM_000181.4(GUSB):c.658C>T (p.Leu220=) rs760324067
NM_000181.4(GUSB):c.666G>T (p.Thr222=) rs773822519
NM_000181.4(GUSB):c.66G>A (p.Gly22=) rs976188004
NM_000181.4(GUSB):c.66G>T (p.Gly22=) rs976188004
NM_000181.4(GUSB):c.684C>T (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.699C>T (p.Val233=)
NM_000181.4(GUSB):c.6C>T (p.Ala2=) rs758903707
NM_000181.4(GUSB):c.724+17G>C rs2116026712
NM_000181.4(GUSB):c.725-12T>C rs1791566358
NM_000181.4(GUSB):c.725-14C>A rs758405750
NM_000181.4(GUSB):c.725-18C>A rs754699640
NM_000181.4(GUSB):c.725-18C>G rs754699640
NM_000181.4(GUSB):c.725-18C>T rs754699640
NM_000181.4(GUSB):c.725-18CT[2] rs1173385478
NM_000181.4(GUSB):c.725-7C>G rs2484815573
NM_000181.4(GUSB):c.725-8dup rs768444459
NM_000181.4(GUSB):c.729G>A (p.Leu243=) rs2484815457
NM_000181.4(GUSB):c.738C>T (p.Tyr246=) rs764866250
NM_000181.4(GUSB):c.744C>T (p.Ile248=) rs2484815310
NM_000181.4(GUSB):c.762C>T (p.Asn254=) rs1297856448
NM_000181.4(GUSB):c.765G>T (p.Leu255=) rs2115977392
NM_000181.4(GUSB):c.768C>T (p.Phe256=) rs774882132
NM_000181.4(GUSB):c.78G>T (p.Gly26=) rs1342758094
NM_000181.4(GUSB):c.792T>C (p.Asp264=) rs1791558497
NM_000181.4(GUSB):c.813G>T (p.Ala271=) rs150999162
NM_000181.4(GUSB):c.873C>T (p.Tyr291=) rs2484813602
NM_000181.4(GUSB):c.87C>T (p.Tyr29=) rs2484858290
NM_000181.4(GUSB):c.882C>T (p.His294=) rs766837276
NM_000181.4(GUSB):c.894C>G (p.Ala298=)
NM_000181.4(GUSB):c.90C>G (p.Pro30=) rs745503914
NM_000181.4(GUSB):c.90C>T (p.Pro30=) rs745503914
NM_000181.4(GUSB):c.912+15G>C rs771840511
NM_000181.4(GUSB):c.913-16G>A rs2115962921
NM_000181.4(GUSB):c.913-18G>C rs2484807107
NM_000181.4(GUSB):c.913-5C>T
NM_000181.4(GUSB):c.927A>C (p.Ala309=) rs2484806825
NM_000181.4(GUSB):c.93G>A (p.Gln31=) rs2484858179
NM_000181.4(GUSB):c.942G>A (p.Gly314=) rs1583924691
NM_000181.4(GUSB):c.945T>C (p.Pro315=) rs1791476210
NM_000181.4(GUSB):c.963A>T (p.Thr321=) rs142706520
NM_000181.4(GUSB):c.966C>A (p.Leu322=) rs764537946
NM_000181.4(GUSB):c.984T>G (p.Thr328=)
NM_000181.4(GUSB):c.99C>T (p.Ser33=) rs1167563693

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.