ClinVar Miner

List of variants studied for bone disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000660.7(TGFB1):c.355+5G>A rs11466318 0.00817
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00707
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982 0.00611
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00609
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00333
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00262
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00225
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00221
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00207
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00205
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00194
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00177
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00119
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00116
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00115
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val) rs141952128 0.00090
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_004364.5(CEBPA):c.-39C>A rs41434054 0.00082
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00074
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00066
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935 0.00053
NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser) rs143812636 0.00052
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00046
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00046
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00040
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00031
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00027
NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=) rs142602984 0.00026
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613 0.00019
NM_139057.4(ADAMTS17):c.3275C>T (p.Pro1092Leu) rs201896149 0.00019
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00013
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00012
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_001287.6(CLCN7):c.2073+4C>T rs768190489 0.00010
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_173842.3(IL1RN):c.496G>A (p.Val166Ile) rs143208167 0.00010
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00009
NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu) rs201372116 0.00008
NM_001440.4(EXTL3):c.2486T>C (p.Ile829Thr) rs756753935 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met) rs55860727 0.00007
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046 0.00006
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln) rs750182732 0.00006
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser) rs150132039 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_001375808.2(LPIN2):c.959C>T (p.Thr320Ile) rs150648432 0.00004
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00004
NM_030957.4(ADAMTS10):c.1084+6C>T rs546632704 0.00004
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00003
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001321396.3(IKBKG):c.-16+3G>A rs782367664 0.00003
NM_001375808.2(LPIN2):c.584C>T (p.Ala195Val) rs1226336598 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00003
NM_031471.6(FERMT3):c.558G>A (p.Ser186=) rs747094642 0.00003
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 0.00003
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00002
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr) rs1259370853 0.00002
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del) rs1315596315 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655 0.00002
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00001
NM_000135.4(FANCA):c.2013T>C (p.Asp671=) rs1225307143 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.6164-5T>C rs2043085940 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) rs1234424650 0.00001
NM_000246.4(CIITA):c.2817-8C>G rs775728920 0.00001
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) rs745791013 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001110556.2(FLNA):c.4474+3G>T rs1286863443 0.00001
NM_001375808.2(LPIN2):c.1367C>T (p.Thr456Ile) rs368807055 0.00001
NM_001711.6(BGN):c.955G>A (p.Asp319Asn) rs933381952 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004327.4(BCR):c.1149C>T (p.Pro383=) rs775817981 0.00001
NM_004327.4(BCR):c.685C>T (p.Pro229Ser) rs1441856766 0.00001
NM_006231.4(POLE):c.3219G>T (p.Gly1073=) rs760636704 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_012330.4(KAT6B):c.2116-9A>G rs747646395 0.00001
NM_014140.4(SMARCAL1):c.1064C>T (p.Ala355Val) rs772913825 0.00001
NM_014140.4(SMARCAL1):c.949G>A (p.Glu317Lys) rs1431549731 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496 0.00001
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser) rs1206200858 0.00001
NC_000009.12:g.35657928T>C rs752723025
NM_000089.4(COL1A2):c.432+2T>A rs2115876295
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile) rs779915218
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2753del (p.Pro918fs) rs2505564723
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.6037+9G>A rs2505451687
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr) rs1566895262
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000142.5(FGFR3):c.1075+95C>G rs2546818546
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) rs1722933723
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser) rs761886612
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys) rs786202177
NM_001042492.3(NF1):c.6897del (p.Lys2300fs) rs2508763044
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) rs760698812
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=) rs782099907
NM_001754.5(RUNX1):c.386dup (p.Val130fs) rs2517440416
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile) rs965539808
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) rs745470061
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln) rs1013688544
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter) rs779866340
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn) rs2105197453
NM_030957.4(ADAMTS10):c.1659G>C (p.Trp553Cys) rs2512603348
NM_030957.4(ADAMTS10):c.2361C>G (p.Ser787Arg) rs1555737301
NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg) rs1555741490
NM_031471.6(FERMT3):c.514+4A>G rs1591027554
NM_139057.4(ADAMTS17):c.1924_1929dup (p.Lys642_Glu643dup) rs533437573
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His) rs145922030
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu) rs144007074
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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