ClinVar Miner

List of variants reported as uncertain significance for Osteogenesis imperfecta type 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_006371.5(CRTAP):c.*1361G>A rs112399944 0.00432
NM_006371.4(CRTAP):c.-101G>C rs189698814 0.00309
NM_006371.5(CRTAP):c.*4844C>T rs146565729 0.00302
NM_006371.5(CRTAP):c.*3221C>T rs552901003 0.00296
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_006371.5(CRTAP):c.*2674A>G rs528845478 0.00171
NM_006371.5(CRTAP):c.*1071G>T rs140601474 0.00160
NM_006371.5(CRTAP):c.*3720C>A rs62250520 0.00160
NM_006371.5(CRTAP):c.*5195C>A rs534020504 0.00128
NM_006371.5(CRTAP):c.*501C>T rs115581077 0.00127
NM_006371.5(CRTAP):c.*2146C>A rs113966745 0.00086
NM_006371.5(CRTAP):c.*5223T>A rs192685869 0.00084
NM_006371.5(CRTAP):c.*3012G>A rs576963168 0.00083
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg) rs201564256 0.00080
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val) rs202118861 0.00070
NM_006371.5(CRTAP):c.*3124G>A rs375326992 0.00069
NM_006371.5(CRTAP):c.*4459C>A rs560001702 0.00062
NM_006371.5(CRTAP):c.*2456T>G rs566327751 0.00058
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser) rs145048208 0.00056
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro) rs200243989 0.00055
NM_006371.5(CRTAP):c.*4857A>C rs540853691 0.00053
NM_006371.5(CRTAP):c.*2956G>A rs547128745 0.00048
NM_006371.5(CRTAP):c.*4601T>C rs528767183 0.00048
NM_006371.5(CRTAP):c.*4994C>T rs760019010 0.00048
NM_006371.5(CRTAP):c.*225G>C rs886058347 0.00039
NM_006371.5(CRTAP):c.*1637G>C rs538128865 0.00035
NM_006371.5(CRTAP):c.*3788G>A rs772312868 0.00027
NM_006371.5(CRTAP):c.*3978T>C rs555292232 0.00023
NM_006371.5(CRTAP):c.373G>C (p.Gly125Arg) rs777442040 0.00023
NM_006371.5(CRTAP):c.*1460C>T rs768618170 0.00022
NM_006371.5(CRTAP):c.*1431C>T rs543450336 0.00021
NM_006371.5(CRTAP):c.*2129A>G rs557919030 0.00017
NM_006371.5(CRTAP):c.*5005G>T rs532876768 0.00017
NM_006371.5(CRTAP):c.761A>G (p.Lys254Arg) rs114245114 0.00017
NM_006371.5(CRTAP):c.*50C>G rs371999646 0.00016
NM_006371.5(CRTAP):c.654C>T (p.Asn218=) rs144486582 0.00016
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu) rs147140948 0.00016
NM_006371.5(CRTAP):c.*1397G>A rs528373518 0.00013
NM_006371.5(CRTAP):c.*991C>T rs886058355 0.00013
NM_006371.5(CRTAP):c.514C>G (p.Leu172Val) rs142090883 0.00012
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys) rs201267683 0.00012
NM_006371.5(CRTAP):c.*2693C>T rs149468116 0.00011
NM_006371.5(CRTAP):c.*5190G>T rs901408269 0.00011
NM_006371.5(CRTAP):c.459C>G (p.Phe153Leu) rs531119589 0.00011
NM_006371.5(CRTAP):c.*539C>G rs750130051 0.00010
NM_006371.5(CRTAP):c.85G>C (p.Glu29Gln) rs766784647 0.00010
NM_006371.5(CRTAP):c.88C>A (p.Arg30Ser) rs553076085 0.00010
NM_006371.5(CRTAP):c.*2679G>A rs547363446 0.00009
NM_006371.5(CRTAP):c.*293G>A rs939604527 0.00009
NM_006371.5(CRTAP):c.*3511G>C rs886058369 0.00008
NM_006371.5(CRTAP):c.*4836T>C rs568448045 0.00008
NM_006371.5(CRTAP):c.233G>A (p.Arg78His) rs372600896 0.00008
NM_006371.5(CRTAP):c.131T>C (p.Leu44Pro) rs772784211 0.00007
NM_006371.5(CRTAP):c.13C>A (p.Arg5Ser) rs758652009 0.00007
NM_006371.5(CRTAP):c.724G>A (p.Glu242Lys) rs147836108 0.00007
NM_006371.5(CRTAP):c.851T>C (p.Val284Ala) rs747772727 0.00007
NM_006371.5(CRTAP):c.*238G>A rs886058348 0.00006
NM_006371.5(CRTAP):c.*5048G>A rs886058376 0.00006
NM_006371.5(CRTAP):c.*422T>C rs763428960 0.00005
NM_006371.5(CRTAP):c.368A>G (p.Lys123Arg) rs767456804 0.00005
NM_006371.5(CRTAP):c.499G>A (p.Ala167Thr) rs754568024 0.00005
NM_006371.5(CRTAP):c.62T>G (p.Leu21Arg) rs775265156 0.00005
NM_006371.5(CRTAP):c.*2968G>A rs1292526404 0.00004
NM_006371.5(CRTAP):c.*5313T>G rs886058379 0.00004
NM_006371.5(CRTAP):c.111A>G (p.Pro37=) rs772038741 0.00004
NM_006371.5(CRTAP):c.1129G>A (p.Glu377Lys) rs546298253 0.00004
NM_006371.5(CRTAP):c.168C>G (p.Ser56Arg) rs146112611 0.00004
NM_006371.5(CRTAP):c.611A>C (p.Lys204Thr) rs145623565 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_006371.5(CRTAP):c.760A>G (p.Lys254Glu) rs756183963 0.00004
NM_006371.5(CRTAP):c.*4190C>T rs1427913520 0.00003
NM_006371.5(CRTAP):c.*4691T>C rs775051039 0.00003
NM_006371.5(CRTAP):c.*608G>A rs886058352 0.00003
NM_006371.5(CRTAP):c.*865C>G rs545771795 0.00003
NM_006371.5(CRTAP):c.1067C>G (p.Pro356Arg) rs1487896301 0.00003
NM_006371.5(CRTAP):c.143A>G (p.Tyr48Cys) rs768012717 0.00003
NM_006371.5(CRTAP):c.308A>G (p.Tyr103Cys) rs769117004 0.00003
NM_006371.5(CRTAP):c.376C>T (p.Leu126=) rs756961672 0.00003
NM_006371.5(CRTAP):c.976C>G (p.Gln326Glu) rs116821774 0.00003
NM_006371.5(CRTAP):c.*1193A>G rs1026331026 0.00002
NM_006371.5(CRTAP):c.*2242A>C rs886058362 0.00002
NM_006371.5(CRTAP):c.*2687C>T rs565676142 0.00002
NM_006371.5(CRTAP):c.*3061C>G rs371938944 0.00002
NM_006371.5(CRTAP):c.*348A>G rs886058349 0.00002
NM_006371.5(CRTAP):c.*4422C>G rs373275402 0.00002
NM_006371.5(CRTAP):c.*4940G>C rs1323498830 0.00002
NM_006371.5(CRTAP):c.*4950A>G rs780502214 0.00002
NM_006371.5(CRTAP):c.*5134T>C rs958340124 0.00002
NM_006371.5(CRTAP):c.1068+11T>C rs761750861 0.00002
NM_006371.5(CRTAP):c.1151A>G (p.Glu384Gly) rs754519818 0.00002
NM_006371.5(CRTAP):c.23C>T (p.Ala8Val) rs770294468 0.00002
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) rs540998437 0.00002
NM_006371.5(CRTAP):c.644G>A (p.Arg215Gln) rs572086683 0.00002
NM_006371.5(CRTAP):c.742G>A (p.Glu248Lys) rs765752550 0.00002
NM_006371.5(CRTAP):c.767T>G (p.Phe256Cys) rs139099707 0.00002
NM_006371.5(CRTAP):c.825A>G (p.Ile275Met) rs764370024 0.00002
NM_006371.4(CRTAP):c.-119G>A rs900256700 0.00001
NM_006371.4(CRTAP):c.-88C>T rs549258892 0.00001
NM_006371.5(CRTAP):c.*1608A>G rs904905604 0.00001
NM_006371.5(CRTAP):c.*1614G>A rs886058360 0.00001
NM_006371.5(CRTAP):c.*1853A>G rs1430038230 0.00001
NM_006371.5(CRTAP):c.*2071A>G rs969150344 0.00001
NM_006371.5(CRTAP):c.*2113A>G rs774529962 0.00001
NM_006371.5(CRTAP):c.*2435T>G rs1370062497 0.00001
NM_006371.5(CRTAP):c.*2829C>G rs1412857097 0.00001
NM_006371.5(CRTAP):c.*2976C>T rs886058366 0.00001
NM_006371.5(CRTAP):c.*3113G>A rs886058367 0.00001
NM_006371.5(CRTAP):c.*3224T>C rs886058368 0.00001
NM_006371.5(CRTAP):c.*496A>G rs1414037282 0.00001
NM_006371.5(CRTAP):c.*670G>A rs558551071 0.00001
NM_006371.5(CRTAP):c.-35C>T rs567359532 0.00001
NM_006371.5(CRTAP):c.1022A>G (p.His341Arg) rs781545232 0.00001
NM_006371.5(CRTAP):c.1138A>G (p.Met380Val) rs2030358355 0.00001
NM_006371.5(CRTAP):c.125T>C (p.Met42Thr) rs761551356 0.00001
NM_006371.5(CRTAP):c.157G>C (p.Asp53His) rs752802071 0.00001
NM_006371.5(CRTAP):c.170G>A (p.Gly57Asp) rs747689884 0.00001
NM_006371.5(CRTAP):c.17G>T (p.Arg6Leu) rs780490905 0.00001
NM_006371.5(CRTAP):c.20G>C (p.Gly7Ala) rs886044235 0.00001
NM_006371.5(CRTAP):c.239G>A (p.Ser80Asn) rs754916341 0.00001
NM_006371.5(CRTAP):c.271G>C (p.Ala91Pro) rs886058345 0.00001
NM_006371.5(CRTAP):c.325T>C (p.Phe109Leu) rs775914088 0.00001
NM_006371.5(CRTAP):c.344G>A (p.Arg115His) rs867761925 0.00001
NM_006371.5(CRTAP):c.371A>G (p.Gln124Arg) rs752605909 0.00001
NM_006371.5(CRTAP):c.388C>T (p.Arg130Cys) rs969878155 0.00001
NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu) rs137853938 0.00001
NM_006371.5(CRTAP):c.429G>T (p.Gln143His) rs766390490 0.00001
NM_006371.5(CRTAP):c.469A>C (p.Lys157Gln) rs137853942 0.00001
NM_006371.5(CRTAP):c.496G>A (p.Ala166Thr) rs1436939742 0.00001
NM_006371.5(CRTAP):c.528T>G (p.Pro176=) rs774680682 0.00001
NM_006371.5(CRTAP):c.535G>A (p.Glu179Lys) rs953081958 0.00001
NM_006371.5(CRTAP):c.622-3C>G rs563594799 0.00001
NM_006371.5(CRTAP):c.643C>T (p.Arg215Trp) rs149281572 0.00001
NM_006371.5(CRTAP):c.677T>A (p.Ile226Asn) rs2029999836 0.00001
NM_006371.5(CRTAP):c.68C>T (p.Ala23Val) rs1401887028 0.00001
NM_006371.5(CRTAP):c.70G>A (p.Gly24Arg) rs763727738 0.00001
NM_006371.5(CRTAP):c.751A>G (p.Arg251Gly) rs1351893746 0.00001
NM_006371.5(CRTAP):c.889A>G (p.Met297Val) rs761161112 0.00001
NM_006371.5(CRTAP):c.928G>A (p.Asp310Asn) rs111525897 0.00001
NM_006371.5(CRTAP):c.92A>G (p.Tyr31Cys) rs372115693 0.00001
NM_006371.5(CRTAP):c.953C>T (p.Ala318Val) rs114178925 0.00001
NM_006371.5(CRTAP):c.986A>G (p.Lys329Arg) rs757967789 0.00001
NC_000003.11:g.(?_33183867)_(33183940_?)del
NM_006371.4(CRTAP):c.-83G>A rs890031275
NM_006371.5(CRTAP):c.*1181A>T rs556192429
NM_006371.5(CRTAP):c.*1254C>A rs886058357
NM_006371.5(CRTAP):c.*1564A>G rs886058359
NM_006371.5(CRTAP):c.*1606C>G rs2030655041
NM_006371.5(CRTAP):c.*2146C>T rs113966745
NM_006371.5(CRTAP):c.*2218C>T rs886058361
NM_006371.5(CRTAP):c.*2302G>A rs886058363
NM_006371.5(CRTAP):c.*2431G>A rs886058364
NM_006371.5(CRTAP):c.*2585G>C rs886058365
NM_006371.5(CRTAP):c.*2837G>T rs764661352
NM_006371.5(CRTAP):c.*3110G>C rs2030698620
NM_006371.5(CRTAP):c.*3332G>T rs535312612
NM_006371.5(CRTAP):c.*3588A>G rs1336476058
NM_006371.5(CRTAP):c.*3710T>C rs1575522291
NM_006371.5(CRTAP):c.*3731C>T rs561959158
NM_006371.5(CRTAP):c.*3891C>A rs4678478
NM_006371.5(CRTAP):c.*4099A>G rs886058370
NM_006371.5(CRTAP):c.*4124G>A rs183098032
NM_006371.5(CRTAP):c.*4124G>T rs183098032
NM_006371.5(CRTAP):c.*4427A>G rs2030735903
NM_006371.5(CRTAP):c.*4568C>T rs536756882
NM_006371.5(CRTAP):c.*4592T>C rs2030740279
NM_006371.5(CRTAP):c.*4647T>A rs886058373
NM_006371.5(CRTAP):c.*4705G>A rs145711257
NM_006371.5(CRTAP):c.*4786G>C rs1019554127
NM_006371.5(CRTAP):c.*4809A>G rs886058375
NM_006371.5(CRTAP):c.*5054A>G rs886058377
NM_006371.5(CRTAP):c.*5077A>G rs886058378
NM_006371.5(CRTAP):c.*5183C>A rs1284480065
NM_006371.5(CRTAP):c.*526G>C rs886058351
NM_006371.5(CRTAP):c.*69G>T rs2030606287
NM_006371.5(CRTAP):c.*703A>T rs886058353
NM_006371.5(CRTAP):c.*712A>T rs544339410
NM_006371.5(CRTAP):c.*910T>C rs886058354
NM_006371.5(CRTAP):c.101G>T (p.Arg34Leu) rs1468902182
NM_006371.5(CRTAP):c.101_109dup (p.Arg34_Phe36dup) rs778741063
NM_006371.5(CRTAP):c.1030A>G (p.Thr344Ala) rs1575518722
NM_006371.5(CRTAP):c.1031C>A (p.Thr344Asn) rs1305456639
NM_006371.5(CRTAP):c.104G>C (p.Ser35Thr) rs573867257
NM_006371.5(CRTAP):c.1068+12G>A
NM_006371.5(CRTAP):c.1112T>C (p.Leu371Pro)
NM_006371.5(CRTAP):c.1135A>G (p.Ile379Val)
NM_006371.5(CRTAP):c.113G>C (p.Arg38Pro) rs1311153988
NM_006371.5(CRTAP):c.1141del (p.Asp381fs)
NM_006371.5(CRTAP):c.1152+5G>C rs1553617810
NM_006371.5(CRTAP):c.1153-3C>T
NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr) rs768482278
NM_006371.5(CRTAP):c.1192G>A (p.Glu398Lys) rs201513139
NM_006371.5(CRTAP):c.143A>T (p.Tyr48Phe)
NM_006371.5(CRTAP):c.146G>C (p.Arg49Pro) rs1376339738
NM_006371.5(CRTAP):c.155T>C (p.Leu52Pro) rs1435396409
NM_006371.5(CRTAP):c.163T>C (p.Tyr55His)
NM_006371.5(CRTAP):c.169G>A (p.Gly57Ser)
NM_006371.5(CRTAP):c.173A>G (p.Glu58Gly) rs1701312995
NM_006371.5(CRTAP):c.196T>G (p.Tyr66Asp)
NM_006371.5(CRTAP):c.215G>T (p.Arg72Leu)
NM_006371.5(CRTAP):c.224G>A (p.Arg75His) rs1488937584
NM_006371.5(CRTAP):c.235G>C (p.Asp79His) rs375833342
NM_006371.5(CRTAP):c.235G>T (p.Asp79Tyr) rs375833342
NM_006371.5(CRTAP):c.257G>C (p.Arg86Pro) rs2125595979
NM_006371.5(CRTAP):c.260A>G (p.Asn87Ser)
NM_006371.5(CRTAP):c.261C>A (p.Asn87Lys)
NM_006371.5(CRTAP):c.267C>G (p.Ser89Arg) rs2125595986
NM_006371.5(CRTAP):c.280C>T (p.Pro94Ser)
NM_006371.5(CRTAP):c.29C>T (p.Ala10Val) rs769955892
NM_006371.5(CRTAP):c.329G>T (p.Gly110Val) rs761073068
NM_006371.5(CRTAP):c.32T>C (p.Leu11Pro) rs1701307738
NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys)
NM_006371.5(CRTAP):c.340C>T (p.Arg114Cys)
NM_006371.5(CRTAP):c.343C>G (p.Arg115Gly)
NM_006371.5(CRTAP):c.352_353delinsCT (p.Cys118Leu) rs1701317564
NM_006371.5(CRTAP):c.353G>A (p.Cys118Tyr) rs765234021
NM_006371.5(CRTAP):c.35T>C (p.Leu12Pro)
NM_006371.5(CRTAP):c.36_44dup (p.10ALL[3]) rs777594626
NM_006371.5(CRTAP):c.380C>A (p.Pro127Gln) rs921862940
NM_006371.5(CRTAP):c.387C>G (p.Phe129Leu) rs778764392
NM_006371.5(CRTAP):c.400C>A (p.Pro134Thr)
NM_006371.5(CRTAP):c.40C>G (p.Leu14Val) rs909805285
NM_006371.5(CRTAP):c.412G>A (p.Val138Met)
NM_006371.5(CRTAP):c.430C>T (p.Arg144Cys)
NM_006371.5(CRTAP):c.436G>A (p.Glu146Lys)
NM_006371.5(CRTAP):c.438G>T (p.Glu146Asp)
NM_006371.5(CRTAP):c.443A>C (p.Tyr148Ser) rs1185323876
NM_006371.5(CRTAP):c.44_64dup (p.Leu15_Leu21dup) rs1701307846
NM_006371.5(CRTAP):c.452T>G (p.Leu151Arg) rs1405064021
NM_006371.5(CRTAP):c.471+2C>T rs137853943
NM_006371.5(CRTAP):c.471+8C>G rs1215281758
NM_006371.5(CRTAP):c.473C>G (p.Ala158Gly)
NM_006371.5(CRTAP):c.4G>C (p.Glu2Gln)
NM_006371.5(CRTAP):c.50T>A (p.Val17Glu) rs1701308393
NM_006371.5(CRTAP):c.517C>G (p.Leu173Val) rs778115119
NM_006371.5(CRTAP):c.518T>C (p.Leu173Pro) rs139024557
NM_006371.5(CRTAP):c.527C>A (p.Pro176His)
NM_006371.5(CRTAP):c.534C>G (p.Asp178Glu) rs4076086
NM_006371.5(CRTAP):c.542T>C (p.Met181Thr) rs2125598667
NM_006371.5(CRTAP):c.544A>C (p.Lys182Gln)
NM_006371.5(CRTAP):c.57C>T (p.Cys19=)
NM_006371.5(CRTAP):c.58G>A (p.Ala20Thr)
NM_006371.5(CRTAP):c.602T>G (p.Leu201Arg) rs376333603
NM_006371.5(CRTAP):c.621A>T (p.Glu207Asp)
NM_006371.5(CRTAP):c.680C>T (p.Thr227Ile) rs564175168
NM_006371.5(CRTAP):c.684C>G (p.Asp228Glu)
NM_006371.5(CRTAP):c.685A>T (p.Met229Leu)
NM_006371.5(CRTAP):c.687G>A (p.Met229Ile)
NM_006371.5(CRTAP):c.703G>A (p.Asp235Asn) rs770887829
NM_006371.5(CRTAP):c.721T>G (p.Tyr241Asp) rs2125600442
NM_006371.5(CRTAP):c.728G>A (p.Cys243Tyr)
NM_006371.5(CRTAP):c.733G>A (p.Ala245Thr)
NM_006371.5(CRTAP):c.73C>A (p.Arg25Ser)
NM_006371.5(CRTAP):c.756G>C (p.Glu252Asp) rs116519163
NM_006371.5(CRTAP):c.769A>C (p.Lys257Gln)
NM_006371.5(CRTAP):c.793+12G>T
NM_006371.5(CRTAP):c.794-3C>T
NM_006371.5(CRTAP):c.802G>A (p.Val268Ile) rs112423184
NM_006371.5(CRTAP):c.83A>G (p.Tyr28Cys)
NM_006371.5(CRTAP):c.88C>T (p.Arg30Cys) rs553076085
NM_006371.5(CRTAP):c.896A>G (p.His299Arg)
NM_006371.5(CRTAP):c.8C>A (p.Pro3Gln)
NM_006371.5(CRTAP):c.903_908del (p.Leu301_Gln302del) rs2030205751
NM_006371.5(CRTAP):c.904C>A (p.Gln302Lys) rs2030205875
NM_006371.5(CRTAP):c.90C>G (p.Arg30=) rs1256135890
NM_006371.5(CRTAP):c.930C>T (p.Asp310=) rs762039541
NM_006371.5(CRTAP):c.94A>G (p.Ser32Gly) rs748431852
NM_006371.5(CRTAP):c.959G>A (p.Ser320Asn) rs2125603844
NM_006371.5(CRTAP):c.962A>G (p.Tyr321Cys)
NM_006371.5(CRTAP):c.988G>A (p.Val330Ile) rs2030300085
NM_006371.5(CRTAP):c.99C>G (p.Phe33Leu)

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