ClinVar Miner

List of variants reported as likely benign for Osteogenesis imperfecta

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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022167.4(XYLT2):c.166G>A (p.Asp56Asn) rs113835371 0.01034
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_022167.4(XYLT2):c.1089-9T>C rs193124050 0.00832
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193 0.00532
NM_022167.4(XYLT2):c.359G>A (p.Arg120His) rs145954495 0.00528
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445 0.00458
NM_003118.4(SPARC):c.733G>A (p.Gly245Arg) rs41290587 0.00445
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775 0.00428
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) rs145406397 0.00373
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_022167.4(XYLT2):c.1619C>T (p.Thr540Ile) rs151294421 0.00366
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_002335.4(LRP5):c.16C>A (p.Pro6Thr) rs771718186 0.00289
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) rs147997412 0.00288
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_021939.4(FKBP10):c.1734C>T (p.Val578=) rs115239900 0.00250
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055 0.00232
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00230
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_005032.7(PLS3):c.925A>G (p.Ile309Val) rs140968059 0.00200
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) rs3736229 0.00195
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_003118.4(SPARC):c.187G>A (p.Glu63Lys) rs113617771 0.00165
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=) rs139974816 0.00155
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_002335.4(LRP5):c.1221G>A (p.Ala407=) rs150970251 0.00106
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_006129.5(BMP1):c.941G>A (p.Arg314His) rs538263166 0.00100
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_022167.4(XYLT2):c.2391C>T (p.Ala797=) rs141527159 0.00081
NM_001025295.3(IFITM5):c.34G>T (p.Ala12Ser) rs568880098 0.00079
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_001025295.3(IFITM5):c.87G>A (p.Pro29=) rs372443030 0.00061
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) rs147665692 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_015884.4(MBTPS2):c.1237C>T (p.His413Tyr) rs200298161 0.00051
NM_002335.4(LRP5):c.2829G>A (p.Pro943=) rs201018263 0.00046
NM_015884.4(MBTPS2):c.408G>A (p.Ser136=) rs148895141 0.00045
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser) rs145446512 0.00041
NM_005430.4(WNT1):c.*9G>A rs201599168 0.00041
NM_001235.5(SERPINH1):c.188C>T (p.Ala63Val) rs576480194 0.00038
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=) rs41317725 0.00028
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_002335.4(LRP5):c.4156G>A (p.Ala1386Thr) rs547456980 0.00023
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val) rs199758976 0.00018
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=) rs545459178 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_002335.4(LRP5):c.3468G>A (p.Gln1156=) rs724159825 0.00015
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=) rs369434464 0.00014
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_001025295.3(IFITM5):c.42G>A (p.Thr14=) rs775669597 0.00013
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=) rs371946947 0.00009
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000089.4(COL1A2):c.2025+9A>G rs368837694 0.00007
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp) rs201750444 0.00007
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00006
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) rs200179967 0.00006
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_002335.4(LRP5):c.2547C>T (p.Phe849=) rs771492871 0.00004
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp) rs571962145 0.00002
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000089.4(COL1A2):c.1252-8_1252-7del rs35587403
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000089.4(COL1A2):c.3435G>A (p.Gln1145=) rs193922169
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=) rs79625057
NM_001025295.3(IFITM5):c.187-10CT[2] rs781543593
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
NM_002335.4(LRP5):c.3487C>T (p.Leu1163Phe) rs562616743
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.4446G>A (p.Ser1482=) rs142191419
NM_002335.4(LRP5):c.4446G>C (p.Ser1482=) rs142191419
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_005032.7(PLS3):c.749-8del rs111323826
NM_006129.5(BMP1):c.2487C>A (p.Pro829=) rs367978759
NM_022167.4(XYLT2):c.2023G>A (p.Val675Met) rs147831067

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