ClinVar Miner

List of variants in gene IDS reported as pathogenic for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 288
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148564277)_(148564769_?)del
NC_000023.10:g.(?_148564277)_(148586667_?)del
NC_000023.10:g.(?_148571835)_(148582578_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.6(IDS):c.[1403G>A;1394A>T]
NM_000202.8(IDS):c.102_103delinsT (p.Asp35fs)
NM_000202.8(IDS):c.103+1G>A
NM_000202.8(IDS):c.103+2T>A
NM_000202.8(IDS):c.103G>C (p.Asp35His) rs2089514224
NM_000202.8(IDS):c.104-1G>A
NM_000202.8(IDS):c.104-1_104delinsT rs2089505743
NM_000202.8(IDS):c.104-2A>C rs2089505773
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.113dup (p.Asn38fs)
NM_000202.8(IDS):c.115_118dup (p.Leu40fs)
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1181-1G>C rs864622777
NM_000202.8(IDS):c.1181-2A>G
NM_000202.8(IDS):c.1185del (p.Arg395fs)
NM_000202.8(IDS):c.1186C>T (p.Gln396Ter)
NM_000202.8(IDS):c.1186_1187insTGCCT (p.Gln396fs)
NM_000202.8(IDS):c.1188del (p.Gln396fs) rs2520758970
NM_000202.8(IDS):c.1191del (p.Met398fs) rs2089308367
NM_000202.8(IDS):c.1198dup (p.Leu400fs)
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs) rs2089308167
NM_000202.8(IDS):c.1215del (p.Leu406fs)
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs) rs2123995091
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1220_1221del (p.Phe407fs)
NM_000202.8(IDS):c.1221del (p.Thr409fs) rs2089308131
NM_000202.8(IDS):c.1224del (p.Thr409fs)
NM_000202.8(IDS):c.1224dup (p.Thr409fs) rs2123995054
NM_000202.8(IDS):c.1229dup (p.Ala411fs)
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter) rs2089307950
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs) rs2089307879
NM_000202.8(IDS):c.123del (p.Ile42fs)
NM_000202.8(IDS):c.124ATC[1] (p.Ile43del)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1266C>A (p.Cys422Ter)
NM_000202.8(IDS):c.1269dup (p.Val424fs)
NM_000202.8(IDS):c.1270_1271insC (p.Val424fs)
NM_000202.8(IDS):c.1270_1271insCC (p.Val424fs)
NM_000202.8(IDS):c.1270del (p.Val424fs)
NM_000202.8(IDS):c.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1274_1277del (p.Pro425fs)
NM_000202.8(IDS):c.1274del (p.Pro425fs)
NM_000202.8(IDS):c.1277C>G (p.Ser426Ter)
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr) rs2520754861
NM_000202.8(IDS):c.1283_1284del (p.His428fs)
NM_000202.8(IDS):c.1288G>T (p.Glu430Ter)
NM_000202.8(IDS):c.128_129del (p.Ile43fs)
NM_000202.8(IDS):c.1294T>C (p.Cys432Arg)
NM_000202.8(IDS):c.1294_1298dup (p.Arg433fs)
NM_000202.8(IDS):c.1295G>A (p.Cys432Tyr)
NM_000202.8(IDS):c.1296C>A (p.Cys432Ter)
NM_000202.8(IDS):c.1296del (p.Leu431_Cys432insTer)
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys) rs2520757198
NM_000202.8(IDS):c.1312del (p.Leu438fs)
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1319dup (p.His441fs)
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1337dup (p.Asp446fs)
NM_000202.8(IDS):c.133G>A (p.Asp45Asn)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.133del (p.Asp45fs) rs2089504895
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter) rs2089306573
NM_000202.8(IDS):c.1344del (p.Glu449fs)
NM_000202.8(IDS):c.1348del (p.Asp450fs)
NM_000202.8(IDS):c.134A>G (p.Asp45Gly) rs2520901934
NM_000202.8(IDS):c.1350del (p.Pro451fs) rs2089306467
NM_000202.8(IDS):c.1353_1354insATCG (p.Tyr452fs)
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs) rs2089306333
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter) rs2520756362
NM_000202.8(IDS):c.1356C>G (p.Tyr452Ter)
NM_000202.8(IDS):c.1356_1366del (p.Tyr452_Asn456delinsTer)
NM_000202.8(IDS):c.135T>A (p.Asp45Glu)
NM_000202.8(IDS):c.1362_1365dup (p.Asn456delinsTrpTer)
NM_000202.8(IDS):c.136G>A (p.Asp46Asn) rs2089504816
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1377del (p.Glu459fs)
NM_000202.8(IDS):c.137A>C (p.Asp46Ala)
NM_000202.8(IDS):c.138C>A (p.Asp46Glu) rs2520901887
NM_000202.8(IDS):c.1390dup (p.Ser464fs)
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1396_1404dup (p.Arg468_Pro469insTyrProArg)
NM_000202.8(IDS):c.1398T>A (p.Tyr466Ter)
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1402C>G (p.Arg468Gly)
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1402del (p.Arg468fs) rs2123994397
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro) rs113993946
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu) rs113993946
NM_000202.8(IDS):c.1411_1412del (p.Asp471fs)
NM_000202.8(IDS):c.1418del (p.Pro473fs)
NM_000202.8(IDS):c.1420C>T (p.Gln474Ter)
NM_000202.8(IDS):c.1421_1422del (p.Gln474fs)
NM_000202.8(IDS):c.1424G>A (p.Trp475Ter)
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del) rs2089305217
NM_000202.8(IDS):c.1431del (p.Asp478fs) rs2089305275
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.8(IDS):c.1433del (p.Asp478fs)
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs) rs2089305109
NM_000202.8(IDS):c.1439C>A (p.Pro480Gln)
NM_000202.8(IDS):c.1439C>G (p.Pro480Arg)
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1444_1445dup (p.Leu482fs)
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter) rs2520754916
NM_000202.8(IDS):c.1453A>T (p.Ile485Leu)
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr) rs782430567
NM_000202.8(IDS):c.1454T>G (p.Ile485Arg)
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs) rs2089305017
NM_000202.8(IDS):c.145_161delinsT (p.Pro49fs)
NM_000202.8(IDS):c.1462_1463insG (p.Met488fs)
NM_000202.8(IDS):c.1463del (p.Met488fs) rs869025307
NM_000202.8(IDS):c.1466G>A (p.Gly489Asp)
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) rs104894863
NM_000202.8(IDS):c.1466G>T (p.Gly489Val)
NM_000202.8(IDS):c.1466del (p.Gly489fs) rs2123994190
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.147del (p.Ser50fs)
NM_000202.8(IDS):c.1482_1488del (p.Asp496fs)
NM_000202.8(IDS):c.1489dup (p.Tyr497fs)
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter) rs2124648374
NM_000202.8(IDS):c.1506G>C (p.Trp502Cys)
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.1509del (p.Gly504fs)
NM_000202.8(IDS):c.1511del (p.Gly504fs)
NM_000202.8(IDS):c.1525G>T (p.Glu509Ter)
NM_000202.8(IDS):c.152_236del (p.Leu51fs) rs2124065699
NM_000202.8(IDS):c.155del (p.Gly52fs)
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1561G>T (p.Glu521Ter)
NM_000202.8(IDS):c.1561del (p.Glu521fs)
NM_000202.8(IDS):c.1561dup (p.Glu521fs) rs2124648304
NM_000202.8(IDS):c.1563del (p.Glu521fs)
NM_000202.8(IDS):c.1567dup (p.Tyr523fs)
NM_000202.8(IDS):c.1568_1581dup (p.Asp528fs)
NM_000202.8(IDS):c.1576del (p.Asp526fs)
NM_000202.8(IDS):c.1587del (p.Leu530fs)
NM_000202.8(IDS):c.1589T>A (p.Leu530Ter) rs2124648259
NM_000202.8(IDS):c.1589dup (p.Leu530fs) rs2124648266
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.159T>A (p.Cys53Ter)
NM_000202.8(IDS):c.1611del (p.Asn537fs)
NM_000202.8(IDS):c.161dup (p.Tyr54Ter)
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) rs141088021
NM_000202.8(IDS):c.162del (p.Cys53_Tyr54insTer)
NM_000202.8(IDS):c.166del (p.Asp56fs)
NM_000202.8(IDS):c.172del (p.Leu58fs) rs2520901458
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.182_189del (p.Ser61fs)
NM_000202.8(IDS):c.185del (p.Pro62fs)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.189T>G (p.Asn63Lys)
NM_000202.8(IDS):c.191T>A (p.Ile64Asn) rs781997631
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.208dup (p.His70fs) rs797044671
NM_000202.8(IDS):c.212G>A (p.Ser71Asn) rs113993954
NM_000202.8(IDS):c.213_225del (p.Ser71fs)
NM_000202.8(IDS):c.219del (p.Phe74fs)
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) rs2089503778
NM_000202.8(IDS):c.230C>A (p.Ala77Asp) rs2520900702
NM_000202.8(IDS):c.231_236del (p.Phe78_Ala79del)
NM_000202.8(IDS):c.236del (p.Ala79fs)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.239A>G (p.Gln80Arg) rs2520900502
NM_000202.8(IDS):c.240+1G>A
NM_000202.8(IDS):c.240+1G>C
NM_000202.8(IDS):c.240+1G>T
NM_000202.8(IDS):c.240+2T>C rs1602749181
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA rs2089503537
NM_000202.8(IDS):c.241-1G>A
NM_000202.8(IDS):c.241-1G>C
NM_000202.8(IDS):c.241-2A>G rs2520897254
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.241-9C>G rs2089497858
NM_000202.8(IDS):c.241C>T (p.Gln81Ter) rs2520897240
NM_000202.8(IDS):c.241_284del
NM_000202.8(IDS):c.242A>G (p.Gln81Arg)
NM_000202.8(IDS):c.245C>T (p.Ala82Val)
NM_000202.8(IDS):c.247del (p.Val83fs)
NM_000202.8(IDS):c.248del (p.Val83fs) rs2089497718
NM_000202.8(IDS):c.251G>C (p.Cys84Ser)
NM_000202.8(IDS):c.252C>A (p.Cys84Ter) rs1557340286
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.253G>C (p.Ala85Pro)
NM_000202.8(IDS):c.253G>T (p.Ala85Ser)
NM_000202.8(IDS):c.254C>A (p.Ala85Asp)
NM_000202.8(IDS):c.257C>A (p.Pro86Gln)
NM_000202.8(IDS):c.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.257del (p.Pro86fs)
NM_000202.8(IDS):c.260G>C (p.Ser87Thr)
NM_000202.8(IDS):c.261C>A (p.Ser87Arg)
NM_000202.8(IDS):c.262C>A (p.Arg88Ser)
NM_000202.8(IDS):c.262C>G (p.Arg88Gly)
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.263G>C (p.Arg88Pro)
NM_000202.8(IDS):c.263G>T (p.Arg88Leu)
NM_000202.8(IDS):c.283A>G (p.Arg95Gly)
NM_000202.8(IDS):c.283A>T (p.Arg95Trp) rs2089497268
NM_000202.8(IDS):c.283del (p.Arg95fs)
NM_000202.8(IDS):c.284G>C (p.Arg95Thr)
NM_000202.8(IDS):c.284_287del (p.Arg95fs)
NM_000202.8(IDS):c.285G>C (p.Arg95Ser)
NM_000202.8(IDS):c.285G>T (p.Arg95Ser)
NM_000202.8(IDS):c.286A>T (p.Arg96Ter)
NM_000202.8(IDS):c.288del (p.Arg96fs)
NM_000202.8(IDS):c.298dup (p.Thr100fs)
NM_000202.8(IDS):c.305T>C (p.Leu102Pro) rs1557340261
NM_000202.8(IDS):c.305del (p.Leu102fs) rs2089496744
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp) rs2089496667
NM_000202.8(IDS):c.309C>A (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.314_317dup (p.Ser107fs) rs797044703
NM_000202.8(IDS):c.314_339del (p.Phe105fs)
NM_000202.8(IDS):c.315dup (p.Asn106fs)
NM_000202.8(IDS):c.320_322del (p.Ser107del)
NM_000202.8(IDS):c.323_325del (p.Tyr108del)
NM_000202.8(IDS):c.326G>A (p.Trp109Ter)
NM_000202.8(IDS):c.327G>A (p.Trp109Ter)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.329G>T (p.Arg110Met)
NM_000202.8(IDS):c.330G>C (p.Arg110Ser)
NM_000202.8(IDS):c.343A>T (p.Asn115Tyr)
NM_000202.8(IDS):c.344A>T (p.Asn115Ile)
NM_000202.8(IDS):c.344del (p.Asn115fs)
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.353C>T (p.Thr118Ile) rs2520895871
NM_000202.8(IDS):c.353_369del (p.Thr118fs)
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.359_360insATCC (p.Gln121fs)
NM_000202.8(IDS):c.361C>T (p.Gln121Ter) rs2124063075
NM_000202.8(IDS):c.377dup (p.Asn126fs)
NM_000202.8(IDS):c.383_384del (p.Tyr128fs)
NM_000202.8(IDS):c.389C>A (p.Thr130Asn)
NM_000202.8(IDS):c.393_394dup (p.Ser132fs)
NM_000202.8(IDS):c.395C>A (p.Ser132Ter)
NM_000202.8(IDS):c.397del (p.Val133fs)
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.8(IDS):c.403A>G (p.Lys135Glu) rs2089495673
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.404_405del (p.Lys135fs) rs1557340221
NM_000202.8(IDS):c.405A>T (p.Lys135Asn)
NM_000202.8(IDS):c.409_412del (p.Phe137fs)
NM_000202.8(IDS):c.410T>C (p.Phe137Ser)
NM_000202.8(IDS):c.410_411del (p.Phe137fs)
NM_000202.8(IDS):c.411del (p.His138fs) rs864622776
NM_000202.8(IDS):c.412C>G (p.His138Asp)
NM_000202.8(IDS):c.413A>G (p.His138Arg) rs2520895106
NM_000202.8(IDS):c.416del (p.Pro139fs)
NM_000202.8(IDS):c.416dup (p.Gly140fs)
NM_000202.8(IDS):c.418+1G>A
NM_000202.8(IDS):c.418+1G>C rs1602748255
NM_000202.8(IDS):c.418+1G>T
NM_000202.8(IDS):c.418+1_418+4del rs2520895017
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.418G>A (p.Gly140Arg)
NM_000202.8(IDS):c.418G>C (p.Gly140Arg)
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) rs1602750400
NM_000202.8(IDS):c.95C>A (p.Ser32Ter)
NM_000202.8(IDS):c.99del (p.Thr34fs)
NM_000202.8(IDS):c.[1411G>C;1418C>T]

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