ClinVar Miner

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

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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.103G>C (p.Asp35His) rs2089514224
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.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.1188del (p.Gln396fs)
NM_000202.8(IDS):c.1191del (p.Met398fs) rs2089308367
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs) rs2089308167
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs) rs2123995091
NM_000202.8(IDS):c.1221del (p.Thr409fs) rs2089308131
NM_000202.8(IDS):c.1224dup (p.Thr409fs) rs2123995054
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.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.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys)
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
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.134A>G (p.Asp45Gly)
NM_000202.8(IDS):c.1350del (p.Pro451fs) rs2089306467
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs) rs2089306333
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter)
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.138C>A (p.Asp46Glu)
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
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>T (p.Arg468Leu) rs113993946
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.1438_1442del (p.Pro480fs) rs2089305109
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs) rs2089305017
NM_000202.8(IDS):c.1463del (p.Met488fs) rs869025307
NM_000202.8(IDS):c.1466del (p.Gly489fs) rs2123994190
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
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.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.152_236del (p.Leu51fs) rs2124065699
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1561dup (p.Glu521fs) rs2124648304
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.162T>A (p.Tyr54Ter) rs141088021
NM_000202.8(IDS):c.172del (p.Leu58fs)
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
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.212G>A (p.Ser71Asn) rs113993954
NM_000202.8(IDS):c.223C>T (p.Gln75Ter) rs2089503778
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
NM_000202.8(IDS):c.240+2T>C
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA rs2089503537
NM_000202.8(IDS):c.241-2A>G
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)
NM_000202.8(IDS):c.248del (p.Val83fs) rs2089497718
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.257C>G (p.Pro86Arg) rs1557340280
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
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.283A>T (p.Arg95Trp) rs2089497268
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>G (p.Tyr103Ter) rs1174495581
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.361C>T (p.Gln121Ter) rs2124063075
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.411del (p.His138fs) rs864622776
NM_000202.8(IDS):c.413A>G (p.His138Arg)
NM_000202.8(IDS):c.418+1G>C rs1602748255
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) rs1602750400
NM_000202.8(IDS):c.[1411G>C;1418C>T]

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.