ClinVar Miner

List of variants in gene GUSB reported as likely benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 310
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
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_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_000181.4(GUSB):c.147C>T (p.Ala49=) rs375940373 0.00017
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.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00015
NM_000181.4(GUSB):c.933G>A (p.Thr311=) rs188921177 0.00014
NM_000181.4(GUSB):c.447C>T (p.Phe149=) rs148364905 0.00011
NM_000181.4(GUSB):c.582-17C>T rs760650363 0.00011
NM_000181.4(GUSB):c.202C>T (p.Leu68=) rs746199104 0.00010
NM_000181.4(GUSB):c.1244+17C>T rs199587731 0.00009
NM_000181.4(GUSB):c.211-18C>T rs774828816 0.00008
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.105G>C (p.Ser35=) rs758743865 0.00005
NM_000181.4(GUSB):c.1137C>T (p.Asn379=) rs371271170 0.00005
NM_000181.4(GUSB):c.211-8C>G rs2293340 0.00005
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.510C>T (p.Ile170=) rs752674900 0.00004
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.1062G>A (p.Ala354=) rs554759648 0.00002
NM_000181.4(GUSB):c.1066-16C>T rs758677498 0.00002
NM_000181.4(GUSB):c.1654-4C>T rs563449417 0.00002
NM_000181.4(GUSB):c.397-19G>A rs759668020 0.00002
NM_000181.4(GUSB):c.813G>A (p.Ala271=) rs150999162 0.00002
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911 0.00001
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00001
NM_000181.4(GUSB):c.1212C>T (p.Ile404=) rs375214425 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.1326G>A (p.Ala442=) rs1226319325 0.00001
NM_000181.4(GUSB):c.1791A>G (p.Ser597=) rs767115386 0.00001
NM_000181.4(GUSB):c.1929A>G (p.Gln643=) rs764493374 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.396+15G>T rs757135258 0.00001
NM_000181.4(GUSB):c.414C>T (p.Asp138=) rs1444763456 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.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.861C>T (p.Leu287=) rs753430922 0.00001
NM_000181.4(GUSB):c.870G>A (p.Pro290=) rs377665214 0.00001
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00001
NM_000181.4(GUSB):c.1002C>T (p.Ser334=) rs1166045525
NM_000181.4(GUSB):c.1026T>G (p.Pro342=)
NM_000181.4(GUSB):c.1038C>T (p.His346=)
NM_000181.4(GUSB):c.1044C>T (p.Val348=)
NM_000181.4(GUSB):c.1056G>A (p.Glu352=)
NM_000181.4(GUSB):c.1065+11G>A
NM_000181.4(GUSB):c.1065+18G>A
NM_000181.4(GUSB):c.1066-11C>T
NM_000181.4(GUSB):c.1066-20T>C
NM_000181.4(GUSB):c.1066-4del
NM_000181.4(GUSB):c.1066-6T>C
NM_000181.4(GUSB):c.1066-6_1066-5del
NM_000181.4(GUSB):c.1066-7C>A
NM_000181.4(GUSB):c.1066-9A>G
NM_000181.4(GUSB):c.1077G>A (p.Lys359=)
NM_000181.4(GUSB):c.1083C>T (p.Phe361=)
NM_000181.4(GUSB):c.1092G>A (p.Pro364=)
NM_000181.4(GUSB):c.1096C>T (p.Leu366=)
NM_000181.4(GUSB):c.1098G>A (p.Leu366=)
NM_000181.4(GUSB):c.1116G>A (p.Leu372=)
NM_000181.4(GUSB):c.1119T>G (p.Leu373=)
NM_000181.4(GUSB):c.111G>A (p.Glu37=)
NM_000181.4(GUSB):c.1134C>T (p.Ala378=)
NM_000181.4(GUSB):c.1143C>T (p.Phe381=)
NM_000181.4(GUSB):c.1149C>T (p.Thr383=)
NM_000181.4(GUSB):c.114C>T (p.Cys38=)
NM_000181.4(GUSB):c.1161C>G (p.Pro387=) rs1791437300
NM_000181.4(GUSB):c.1167A>C (p.Ala389=)
NM_000181.4(GUSB):c.1167A>G (p.Ala389=)
NM_000181.4(GUSB):c.117G>A (p.Lys39=)
NM_000181.4(GUSB):c.1182G>A (p.Gln394=)
NM_000181.4(GUSB):c.120G>A (p.Glu40=)
NM_000181.4(GUSB):c.1227C>T (p.Gly409=)
NM_000181.4(GUSB):c.1230G>C (p.Val410=)
NM_000181.4(GUSB):c.1239G>A (p.Ala413=)
NM_000181.4(GUSB):c.1244+15T>C
NM_000181.4(GUSB):c.1244+16G>A
NM_000181.4(GUSB):c.1244+19C>T
NM_000181.4(GUSB):c.1244+20C>G
NM_000181.4(GUSB):c.1245-11C>T
NM_000181.4(GUSB):c.1245-14C>T
NM_000181.4(GUSB):c.1245-19C>A
NM_000181.4(GUSB):c.1245-19C>T rs995961802
NM_000181.4(GUSB):c.1245-5C>T
NM_000181.4(GUSB):c.1245-8G>A
NM_000181.4(GUSB):c.1275C>T (p.His425=)
NM_000181.4(GUSB):c.129C>A (p.Gly43=)
NM_000181.4(GUSB):c.12G>A (p.Gly4=)
NM_000181.4(GUSB):c.1320C>T (p.His440=)
NM_000181.4(GUSB):c.1323C>T (p.Pro441=)
NM_000181.4(GUSB):c.1326G>C (p.Ala442=)
NM_000181.4(GUSB):c.1341T>C (p.Ser447=)
NM_000181.4(GUSB):c.1350C>T (p.Asn450=)
NM_000181.4(GUSB):c.1356T>C (p.Pro452=)
NM_000181.4(GUSB):c.1374T>C (p.Ser458=)
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=)
NM_000181.4(GUSB):c.138C>T (p.Ser46=)
NM_000181.4(GUSB):c.1391+11C>T
NM_000181.4(GUSB):c.1391+12C>T
NM_000181.4(GUSB):c.1391+13T>G
NM_000181.4(GUSB):c.1391+14C>T
NM_000181.4(GUSB):c.1391+17T>C
NM_000181.4(GUSB):c.1391+18G>C
NM_000181.4(GUSB):c.1392-12T>C
NM_000181.4(GUSB):c.1392-14C>T
NM_000181.4(GUSB):c.1401C>A (p.Ile467=)
NM_000181.4(GUSB):c.1401C>T (p.Ile467=)
NM_000181.4(GUSB):c.1417T>C (p.Leu473=)
NM_000181.4(GUSB):c.141C>T (p.Phe47=)
NM_000181.4(GUSB):c.1425C>T (p.Pro475=) rs1791109537
NM_000181.4(GUSB):c.1431G>A (p.Arg477=)
NM_000181.4(GUSB):c.1431G>T (p.Arg477=)
NM_000181.4(GUSB):c.1455T>C (p.Ser485=)
NM_000181.4(GUSB):c.1476+10G>A
NM_000181.4(GUSB):c.1476+13G>T
NM_000181.4(GUSB):c.1476+15C>T
NM_000181.4(GUSB):c.1476+16C>T
NM_000181.4(GUSB):c.1476+18C>A
NM_000181.4(GUSB):c.1476+18C>T
NM_000181.4(GUSB):c.1476+20C>A
NM_000181.4(GUSB):c.1476+20C>T
NM_000181.4(GUSB):c.15G>A (p.Ser5=)
NM_000181.4(GUSB):c.1654-10T>C
NM_000181.4(GUSB):c.1654-10T>G
NM_000181.4(GUSB):c.1654-11T>C
NM_000181.4(GUSB):c.1654-12C>G
NM_000181.4(GUSB):c.1654-12C>T
NM_000181.4(GUSB):c.1654-14G>A
NM_000181.4(GUSB):c.1654-14G>T
NM_000181.4(GUSB):c.1654-9G>A
NM_000181.4(GUSB):c.1663C>T (p.Leu555=)
NM_000181.4(GUSB):c.1704G>A (p.Gln568=)
NM_000181.4(GUSB):c.1770C>T (p.Ala590=)
NM_000181.4(GUSB):c.177C>T (p.Phe59=)
NM_000181.4(GUSB):c.1782T>C (p.Thr594=)
NM_000181.4(GUSB):c.1782T>G (p.Thr594=)
NM_000181.4(GUSB):c.1789+10A>C
NM_000181.4(GUSB):c.1790-11T>C
NM_000181.4(GUSB):c.1790-11T>G
NM_000181.4(GUSB):c.1790-18T>C
NM_000181.4(GUSB):c.1790-20T>A
NM_000181.4(GUSB):c.1790-21_1790-20del
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1794G>A (p.Pro598=)
NM_000181.4(GUSB):c.1797G>A (p.Thr599=)
NM_000181.4(GUSB):c.1804C>T (p.Leu602=)
NM_000181.4(GUSB):c.1809G>A (p.Gly603=)
NM_000181.4(GUSB):c.180G>A (p.Glu60=)
NM_000181.4(GUSB):c.1854A>G (p.Ala618=)
NM_000181.4(GUSB):c.1857G>C (p.Ala619=)
NM_000181.4(GUSB):c.1896A>G (p.Glu632=)
NM_000181.4(GUSB):c.18G>A (p.Ala6=)
NM_000181.4(GUSB):c.18G>C (p.Ala6=)
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=)
NM_000181.4(GUSB):c.1911C>T (p.His637=)
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1926A>G (p.Ser642=)
NM_000181.4(GUSB):c.192C>T (p.Tyr64=)
NM_000181.4(GUSB):c.1945C>T (p.Leu649=)
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
NM_000181.4(GUSB):c.201G>T (p.Pro67=)
NM_000181.4(GUSB):c.210+13G>A
NM_000181.4(GUSB):c.210+16A>C
NM_000181.4(GUSB):c.210+20C>T
NM_000181.4(GUSB):c.211-15C>T
NM_000181.4(GUSB):c.211-16G>A
NM_000181.4(GUSB):c.211-17G>A
NM_000181.4(GUSB):c.211-17G>C rs749802416
NM_000181.4(GUSB):c.211-18C>G
NM_000181.4(GUSB):c.211-20C>G
NM_000181.4(GUSB):c.211-20C>T
NM_000181.4(GUSB):c.211-7T>C rs1299733589
NM_000181.4(GUSB):c.222C>G (p.Thr74=)
NM_000181.4(GUSB):c.240C>T (p.Pro80=)
NM_000181.4(GUSB):c.24C>T (p.Ala8=)
NM_000181.4(GUSB):c.252T>C (p.Asn84=)
NM_000181.4(GUSB):c.288C>T (p.Val96=)
NM_000181.4(GUSB):c.297G>A (p.Val99=)
NM_000181.4(GUSB):c.303C>T (p.Tyr101=)
NM_000181.4(GUSB):c.306A>G (p.Glu102=) rs2116042007
NM_000181.4(GUSB):c.309G>A (p.Arg103=)
NM_000181.4(GUSB):c.30G>A (p.Ala10=)
NM_000181.4(GUSB):c.342C>T (p.Asp114=)
NM_000181.4(GUSB):c.366G>A (p.Arg122=)
NM_000181.4(GUSB):c.36C>T (p.Leu12=)
NM_000181.4(GUSB):c.390C>T (p.Ala130=)
NM_000181.4(GUSB):c.393C>T (p.Ile131=)
NM_000181.4(GUSB):c.396+13A>G
NM_000181.4(GUSB):c.396+14G>A
NM_000181.4(GUSB):c.396+15G>C
NM_000181.4(GUSB):c.396+17G>A
NM_000181.4(GUSB):c.396+8C>T
NM_000181.4(GUSB):c.396+9G>A
NM_000181.4(GUSB):c.397-10G>A
NM_000181.4(GUSB):c.397-10G>C
NM_000181.4(GUSB):c.397-15C>T
NM_000181.4(GUSB):c.397-19G>T
NM_000181.4(GUSB):c.397-9del
NM_000181.4(GUSB):c.408G>A (p.Gly136=)
NM_000181.4(GUSB):c.411C>T (p.Val137=)
NM_000181.4(GUSB):c.417G>A (p.Thr139=)
NM_000181.4(GUSB):c.420A>C (p.Leu140=)
NM_000181.4(GUSB):c.429G>A (p.Glu143=)
NM_000181.4(GUSB):c.42G>T (p.Pro14=)
NM_000181.4(GUSB):c.444C>T (p.Pro148=)
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.453C>T (p.Ala151=)
NM_000181.4(GUSB):c.456C>T (p.Asp152=) rs1420034681
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.462C>T (p.Ser154=)
NM_000181.4(GUSB):c.466C>T (p.Leu156=) rs1410086265
NM_000181.4(GUSB):c.484C>T (p.Leu162=)
NM_000181.4(GUSB):c.486G>A (p.Leu162=)
NM_000181.4(GUSB):c.48G>A (p.Leu16=)
NM_000181.4(GUSB):c.492C>T (p.Ser164=)
NM_000181.4(GUSB):c.501A>C (p.Arg167=)
NM_000181.4(GUSB):c.525A>G (p.Thr175=)
NM_000181.4(GUSB):c.552G>A (p.Gly184=) rs768029322
NM_000181.4(GUSB):c.555C>G (p.Thr185=)
NM_000181.4(GUSB):c.555C>T (p.Thr185=)
NM_000181.4(GUSB):c.570T>C (p.Thr190=)
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102
NM_000181.4(GUSB):c.581+10A>G rs1233559582
NM_000181.4(GUSB):c.581+12C>G
NM_000181.4(GUSB):c.581+17C>T
NM_000181.4(GUSB):c.581+20C>T
NM_000181.4(GUSB):c.581+8C>G
NM_000181.4(GUSB):c.582-12C>G
NM_000181.4(GUSB):c.582-12C>T
NM_000181.4(GUSB):c.582-15G>A
NM_000181.4(GUSB):c.582-19C>G
NM_000181.4(GUSB):c.582-20C>G
NM_000181.4(GUSB):c.582-7A>C
NM_000181.4(GUSB):c.582-9C>T
NM_000181.4(GUSB):c.60G>A (p.Ala20=)
NM_000181.4(GUSB):c.612A>G (p.Thr204=)
NM_000181.4(GUSB):c.615T>C (p.Tyr205=)
NM_000181.4(GUSB):c.621C>T (p.Asp207=)
NM_000181.4(GUSB):c.639A>G (p.Gly213=)
NM_000181.4(GUSB):c.657T>G (p.Leu219=) rs764393614
NM_000181.4(GUSB):c.658C>T (p.Leu220=)
NM_000181.4(GUSB):c.666G>T (p.Thr222=)
NM_000181.4(GUSB):c.66G>A (p.Gly22=)
NM_000181.4(GUSB):c.66G>T (p.Gly22=)
NM_000181.4(GUSB):c.684C>T (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.696C>T (p.Thr232=)
NM_000181.4(GUSB):c.6C>G (p.Ala2=)
NM_000181.4(GUSB):c.6C>T (p.Ala2=)
NM_000181.4(GUSB):c.708C>T (p.Ser236=)
NM_000181.4(GUSB):c.724+17G>C rs2116026712
NM_000181.4(GUSB):c.725-11G>A
NM_000181.4(GUSB):c.725-12T>C
NM_000181.4(GUSB):c.725-14C>A
NM_000181.4(GUSB):c.725-18C>A
NM_000181.4(GUSB):c.725-18C>G rs754699640
NM_000181.4(GUSB):c.725-18C>T
NM_000181.4(GUSB):c.725-18CT[2] rs1173385478
NM_000181.4(GUSB):c.725-4G>A
NM_000181.4(GUSB):c.725-7C>G
NM_000181.4(GUSB):c.725-8dup rs768444459
NM_000181.4(GUSB):c.727C>T (p.Leu243=)
NM_000181.4(GUSB):c.729G>A (p.Leu243=)
NM_000181.4(GUSB):c.738C>T (p.Tyr246=)
NM_000181.4(GUSB):c.744C>T (p.Ile248=)
NM_000181.4(GUSB):c.75C>T (p.Gly25=)
NM_000181.4(GUSB):c.762C>T (p.Asn254=)
NM_000181.4(GUSB):c.765G>T (p.Leu255=) rs2115977392
NM_000181.4(GUSB):c.768C>T (p.Phe256=)
NM_000181.4(GUSB):c.78G>T (p.Gly26=)
NM_000181.4(GUSB):c.792T>C (p.Asp264=)
NM_000181.4(GUSB):c.813G>T (p.Ala271=)
NM_000181.4(GUSB):c.828C>T (p.Thr276=)
NM_000181.4(GUSB):c.873C>T (p.Tyr291=)
NM_000181.4(GUSB):c.87C>T (p.Tyr29=)
NM_000181.4(GUSB):c.882C>T (p.His294=) rs766837276
NM_000181.4(GUSB):c.906A>G (p.Ser302=)
NM_000181.4(GUSB):c.907T>C (p.Leu303=)
NM_000181.4(GUSB):c.90C>G (p.Pro30=)
NM_000181.4(GUSB):c.90C>T (p.Pro30=)
NM_000181.4(GUSB):c.912+15G>C
NM_000181.4(GUSB):c.912+18C>G
NM_000181.4(GUSB):c.912+19A>G
NM_000181.4(GUSB):c.913-16G>A rs2115962921
NM_000181.4(GUSB):c.913-17T>C
NM_000181.4(GUSB):c.913-18G>C
NM_000181.4(GUSB):c.927A>C (p.Ala309=)
NM_000181.4(GUSB):c.937C>T (p.Leu313=)
NM_000181.4(GUSB):c.93G>A (p.Gln31=)
NM_000181.4(GUSB):c.942G>A (p.Gly314=)
NM_000181.4(GUSB):c.945T>C (p.Pro315=)
NM_000181.4(GUSB):c.948G>A (p.Val316=)
NM_000181.4(GUSB):c.954C>T (p.Asp318=)
NM_000181.4(GUSB):c.960C>T (p.Tyr320=)
NM_000181.4(GUSB):c.963A>T (p.Thr321=)
NM_000181.4(GUSB):c.966C>A (p.Leu322=)
NM_000181.4(GUSB):c.99C>T (p.Ser33=)
NM_000181.4(GUSB):c.9G>T (p.Arg3=)

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