ClinVar Miner

List of variants reported as uncertain significance for hyperostosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 377
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_002546.3(TNFRSF11B):c.-284C>T rs11575929 0.00457
NM_002546.4(TNFRSF11B):c.*67C>T rs11573944 0.00356
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_002546.3(TNFRSF11B):c.-257G>T rs368831724 0.00255
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_000088.4(COL1A1):c.-57G>A rs2734278 0.00229
NM_002546.4(TNFRSF11B):c.*682T>C rs189721016 0.00227
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_000088.4(COL1A1):c.*548C>A rs557681960 0.00220
NM_003900.5(SQSTM1):c.*1394C>T rs182968597 0.00169
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_000127.3(EXT1):c.-678C>T rs886062644 0.00127
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_003900.5(SQSTM1):c.*710G>C rs149508576 0.00097
NM_025237.3(SOST):c.*902T>C rs531006039 0.00096
NM_003900.5(SQSTM1):c.*175T>G rs186996560 0.00091
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_000127.3(EXT1):c.-655C>A rs886062642 0.00084
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) rs117028614 0.00082
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) rs144654126 0.00081
NM_003839.4(TNFRSF11A):c.*2564A>G rs555211772 0.00079
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn) rs201402594 0.00073
NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu) rs886054082 0.00070
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_002546.4(TNFRSF11B):c.*609G>A rs529941362 0.00052
NM_000127.3(EXT1):c.-731G>A rs886062645 0.00048
NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr) rs201393730 0.00047
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) rs11548640 0.00046
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_016175.4(MRNIP):c.993C>T (p.Asp331=) rs148611524 0.00041
NM_000088.4(COL1A1):c.-66G>A rs565562045 0.00039
NM_025237.3(SOST):c.153G>A (p.Glu51=) rs150640883 0.00039
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000127.3(EXT1):c.-358T>C rs886062639 0.00037
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
NM_000088.4(COL1A1):c.*1087C>T rs557843360 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_207122.2(EXT2):c.*1153A>T rs185285766 0.00034
NM_000088.4(COL1A1):c.*631G>A rs569577942 0.00033
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 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_000127.3(EXT1):c.*151T>C rs751063786 0.00031
NM_003900.5(SQSTM1):c.-18G>A rs370874635 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000127.3(EXT1):c.-113G>C rs533303304 0.00029
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_000088.4(COL1A1):c.*836C>T rs527358320 0.00028
NM_003839.4(TNFRSF11A):c.*125T>C rs528975442 0.00024
NM_003839.4(TNFRSF11A):c.*126C>T rs548628692 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) rs145242277 0.00023
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) rs4876870 0.00022
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=) rs143414212 0.00021
NM_003839.4(TNFRSF11A):c.*705G>A rs886054096 0.00021
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 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_003839.4(TNFRSF11A):c.*440C>T rs952341053 0.00019
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) rs762733251 0.00019
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) rs199931327 0.00019
NM_207122.2(EXT2):c.*945G>A rs886048282 0.00019
NM_025237.3(SOST):c.*203G>A rs753407763 0.00018
NM_000088.4(COL1A1):c.*120T>C rs773014749 0.00017
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000088.4(COL1A1):c.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.*795C>T rs886053147 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_207122.2(EXT2):c.*838T>G rs991198189 0.00016
NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn) rs150777320 0.00014
NM_003900.5(SQSTM1):c.*1336C>T rs199862884 0.00014
NM_025237.3(SOST):c.*314C>G rs765892196 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_003900.5(SQSTM1):c.-17C>T rs761120269 0.00013
NM_003839.4(TNFRSF11A):c.*1908T>G rs993985244 0.00012
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) rs757543096 0.00011
NM_003900.5(SQSTM1):c.*1353C>T rs1436678583 0.00011
NM_003900.5(SQSTM1):c.*82C>T rs11548622 0.00011
NM_207122.2(EXT2):c.*440A>G rs529075674 0.00011
NM_000088.4(COL1A1):c.*1384_*1387del rs886053139 0.00010
NM_000088.4(COL1A1):c.*502C>T rs1004356084 0.00010
NM_207122.2(EXT2):c.*731A>G rs886048281 0.00010
NM_000088.4(COL1A1):c.*342C>A rs1253268385 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000127.3(EXT1):c.-536G>A rs780662536 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_002546.4(TNFRSF11B):c.332G>A (p.Arg111His) rs200629343 0.00009
NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val) rs373848556 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_002546.3(TNFRSF11B):c.-311G>T rs779000439 0.00008
NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=) rs376708982 0.00008
NM_003839.4(TNFRSF11A):c.731-11G>A rs372772575 0.00008
NM_003900.5(SQSTM1):c.*387A>G rs188873621 0.00008
NM_000088.4(COL1A1):c.*714C>T rs567392981 0.00007
NM_000127.3(EXT1):c.-667C>G rs886062643 0.00007
NM_002546.4(TNFRSF11B):c.277G>A (p.Val93Ile) rs369646136 0.00007
NM_003839.3(TNFRSF11A):c.-49G>A rs886054081 0.00007
NM_003839.4(TNFRSF11A):c.*322C>A rs372420868 0.00007
NM_003900.5(SQSTM1):c.*1141G>A rs143664576 0.00007
NM_207122.2(EXT2):c.-45G>T rs1276665372 0.00007
NM_000088.4(COL1A1):c.*21G>C rs201085309 0.00006
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His) rs374594601 0.00006
NM_003839.4(TNFRSF11A):c.*214G>A rs886054085 0.00006
NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp) rs199863919 0.00006
NM_003839.4(TNFRSF11A):c.555T>C (p.His185=) rs149842577 0.00006
NM_003900.5(SQSTM1):c.*260C>T rs529602681 0.00006
NM_003900.5(SQSTM1):c.*288C>T rs886060506 0.00006
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) rs376283809 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 0.00006
NM_016175.4(MRNIP):c.843C>T (p.Ala281=) rs199727564 0.00006
NM_025237.3(SOST):c.*1529T>C rs182899606 0.00006
NM_207122.2(EXT2):c.*381T>C rs886048280 0.00006
NM_000088.4(COL1A1):c.*1151C>T rs536196631 0.00005
NM_000088.4(COL1A1):c.*1205C>G rs551536386 0.00005
NM_000127.3(EXT1):c.-57G>C rs886062636 0.00005
NM_003839.4(TNFRSF11A):c.*223G>A rs886054086 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_000088.4(COL1A1):c.*285C>A rs990020766 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_002546.4(TNFRSF11B):c.*213C>T rs569762226 0.00004
NM_002546.4(TNFRSF11B):c.*349T>A rs888097904 0.00004
NM_002546.4(TNFRSF11B):c.-10G>A rs752426445 0.00004
NM_002546.4(TNFRSF11B):c.308G>A (p.Arg103His) rs375274060 0.00004
NM_003839.4(TNFRSF11A):c.*1185C>T rs529021055 0.00004
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) rs376096275 0.00004
NM_003900.5(SQSTM1):c.*243C>G rs886060504 0.00004
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00004
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) rs140341924 0.00004
NM_025237.3(SOST):c.114C>T (p.Pro38=) rs750870565 0.00004
NM_207122.1(EXT2):c.-307G>T rs569630494 0.00004
NM_000088.4(COL1A1):c.*682C>T rs77720683 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_002546.4(TNFRSF11B):c.400+5G>A rs372860364 0.00003
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) rs376113816 0.00003
NM_003839.4(TNFRSF11A):c.784-5G>A rs572449155 0.00003
NM_003900.5(SQSTM1):c.*1480C>T rs886060510 0.00003
NM_003900.5(SQSTM1):c.*60C>T rs369609665 0.00003
NM_003900.5(SQSTM1):c.*624T>G rs11548619 0.00003
NM_003900.5(SQSTM1):c.-26C>T rs748135610 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_025237.3(SOST):c.*219T>C rs1017350702 0.00003
NM_207122.2(EXT2):c.*339C>T rs759615273 0.00003
NM_000088.4(COL1A1):c.*251dup rs886053154 0.00002
NM_000088.4(COL1A1):c.*93A>G rs367971695 0.00002
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_002546.4(TNFRSF11B):c.400+15G>A rs757467378 0.00002
NM_003839.4(TNFRSF11A):c.*423G>A rs980089410 0.00002
NM_003839.4(TNFRSF11A):c.*759C>G rs1048132784 0.00002
NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=) rs772827300 0.00002
NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=) rs200952751 0.00002
NM_003900.5(SQSTM1):c.*39C>G rs376209849 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_025237.3(SOST):c.*1267C>G rs76802447 0.00002
NM_025237.3(SOST):c.143C>T (p.Pro48Leu) rs779039644 0.00002
NM_025237.3(SOST):c.177G>A (p.Ala59=) rs201706408 0.00002
NM_207122.2(EXT2):c.-26G>T rs369437823 0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) rs199711832 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_000088.4(COL1A1):c.*194G>A rs886053158 0.00001
NM_000088.4(COL1A1):c.*837G>A rs564977858 0.00001
NM_000088.4(COL1A1):c.-115G>A rs886053164 0.00001
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1669-10C>A rs886053162 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) rs763025405 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000127.3(EXT1):c.*182A>C rs949394800 0.00001
NM_000127.3(EXT1):c.-717G>C rs1381790284 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys) rs1373349863 0.00001
NM_002546.3(TNFRSF11B):c.-191C>G rs886062648 0.00001
NM_002546.3(TNFRSF11B):c.-99G>A rs886062647 0.00001
NM_002546.4(TNFRSF11B):c.*487T>C rs1421622252 0.00001
NM_002546.4(TNFRSF11B):c.*505A>G rs1812213517 0.00001
NM_002546.4(TNFRSF11B):c.*799G>A rs1397220907 0.00001
NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met) rs767927201 0.00001
NM_003839.4(TNFRSF11A):c.*420G>C rs1324561922 0.00001
NM_003839.4(TNFRSF11A):c.*501G>A rs886054091 0.00001
NM_003839.4(TNFRSF11A):c.*693T>G rs886054095 0.00001
NM_003839.4(TNFRSF11A):c.*93G>T rs965196006 0.00001
NM_003839.4(TNFRSF11A):c.-22G>T rs1273385769 0.00001
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile) rs764498229 0.00001
NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val) rs961173072 0.00001
NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=) rs369418441 0.00001
NM_003839.4(TNFRSF11A):c.730+6G>C rs554552883 0.00001
NM_003900.5(SQSTM1):c.*1273C>T rs1443080077 0.00001
NM_003900.5(SQSTM1):c.*259G>A rs886060505 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 0.00001
NM_003900.5(SQSTM1):c.806C>T (p.Thr269Ile) rs185313167 0.00001
NM_016175.4(MRNIP):c.625A>G (p.Arg209Gly) rs778576827 0.00001
NM_025237.3(SOST):c.*1176A>G rs886052978 0.00001
NM_025237.3(SOST):c.*1498G>A rs866808140 0.00001
NM_025237.3(SOST):c.*666T>C rs538476059 0.00001
NM_025237.3(SOST):c.303C>T (p.Thr101=) rs758794256 0.00001
NM_025237.3(SOST):c.328G>A (p.Gly110Ser) rs886052981 0.00001
NM_025237.3(SOST):c.461C>T (p.Pro154Leu) rs760883576 0.00001
NM_207122.2(EXT2):c.*862T>G rs192098481 0.00001
NM_207122.2(EXT2):c.*93G>A rs886048278 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) rs763384036 0.00001
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn) rs886048275 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_000088.4(COL1A1):c.*1007_*1008del rs886053144
NM_000088.4(COL1A1):c.*1026TG[1] rs878983048
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1027del rs878912123
NM_000088.4(COL1A1):c.*1029_*1031del rs886053143
NM_000088.4(COL1A1):c.*1030_*1031del rs886053142
NM_000088.4(COL1A1):c.*1045del rs886053141
NM_000088.4(COL1A1):c.*1316C>G rs967567610
NM_000088.4(COL1A1):c.*1324A>G rs886053140
NM_000088.4(COL1A1):c.*215del rs886053157
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*245_*246dup rs886053155
NM_000088.4(COL1A1):c.*245del rs886053156
NM_000088.4(COL1A1):c.*255dup rs886053153
NM_000088.4(COL1A1):c.*257_*258dup rs886053152
NM_000088.4(COL1A1):c.*258dup rs886053152
NM_000088.4(COL1A1):c.*259_*260insAT rs886053151
NM_000088.4(COL1A1):c.*356T>A rs1906365029
NM_000088.4(COL1A1):c.*437A>C rs886053150
NM_000088.4(COL1A1):c.*623G>A rs886053149
NM_000088.4(COL1A1):c.*733G>A rs886053148
NM_000088.4(COL1A1):c.*73C>A rs1906402899
NM_000088.4(COL1A1):c.*815A>G rs886053146
NM_000088.4(COL1A1):c.*998_*999del rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA rs886053163
NM_000088.4(COL1A1):c.-98G>C rs574683904
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.1554C>A (p.Gly518=) rs762086114
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) rs1423591325
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.3099+7T>G rs201682029
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.957+15C>T rs779096006
NM_000127.3(EXT1):c.*146G>C rs886062634
NM_000127.3(EXT1):c.*82C>G rs886062635
NM_000127.3(EXT1):c.-129A>G rs886062637
NM_000127.3(EXT1):c.-139A>G rs886062638
NM_000127.3(EXT1):c.-16G>A rs1817895495
NM_000127.3(EXT1):c.-612G>A rs886062640
NM_000127.3(EXT1):c.1417+6T>C rs1811940247
NM_000127.3(EXT1):c.2205T>C (p.Ile735=) rs1823135353
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser) rs1817878624
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu) rs1436385815
NM_002546.3(TNFRSF11B):c.-204C>T rs570347828
NM_002546.3(TNFRSF11B):c.-215C>T rs886062649
NM_002546.4(TNFRSF11B):c.*166C>G rs1812218708
NM_002546.4(TNFRSF11B):c.*207C>G rs886062646
NM_002546.4(TNFRSF11B):c.*412A>G rs1379870216
NM_002546.4(TNFRSF11B):c.*463T>A rs574050965
NM_002546.4(TNFRSF11B):c.139G>A (p.Gly47Ser) rs1812353362
NM_002546.4(TNFRSF11B):c.699C>A (p.Asn233Lys) rs150457771
NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu) rs140782326
NM_003839.4(TNFRSF11A):c.*1057A>T rs886054099
NM_003839.4(TNFRSF11A):c.*1178T>C rs1338926671
NM_003839.4(TNFRSF11A):c.*1211C>G rs1233818667
NM_003839.4(TNFRSF11A):c.*1301G>A rs45607736
NM_003839.4(TNFRSF11A):c.*1416C>T rs564830684
NM_003839.4(TNFRSF11A):c.*2289G>A rs1439582614
NM_003839.4(TNFRSF11A):c.*320G>C rs368158690
NM_003839.4(TNFRSF11A):c.*320dup rs552069161
NM_003839.4(TNFRSF11A):c.*321del rs886054088
NM_003839.4(TNFRSF11A):c.*379del rs886054089
NM_003839.4(TNFRSF11A):c.*454T>G rs886054090
NM_003839.4(TNFRSF11A):c.*464T>A rs1911661759
NM_003839.4(TNFRSF11A):c.*502G>T rs1018177597
NM_003839.4(TNFRSF11A):c.*556A>G rs886054092
NM_003839.4(TNFRSF11A):c.*625A>C rs1258163731
NM_003839.4(TNFRSF11A):c.*626_*627insCC rs886054093
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) rs1910368771
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro) rs1911609900
NM_003839.4(TNFRSF11A):c.284-4G>A rs761709562
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) rs867372893
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) rs886054084
NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln) rs886054083
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) rs1249788220
NM_003900.5(SQSTM1):c.*1235T>C rs886060508
NM_003900.5(SQSTM1):c.*1299GA[1] rs745365806
NM_003900.5(SQSTM1):c.*392C>T rs1459174904
NM_003900.5(SQSTM1):c.*431T>G rs1758600041
NM_003900.5(SQSTM1):c.*722T>C rs1758623010
NM_003900.5(SQSTM1):c.*725_*728dup rs144467418
NM_003900.5(SQSTM1):c.-7G>C rs907862704
NM_003900.5(SQSTM1):c.165C>A (p.Phe55Leu) rs886060501
NM_003900.5(SQSTM1):c.181G>A (p.Gly61Ser) rs749801323
NM_003900.5(SQSTM1):c.205+9G>A rs1757759303
NM_003900.5(SQSTM1):c.239A>G (p.Asp80Gly) rs780177259
NM_003900.5(SQSTM1):c.253A>G (p.Met85Val) rs886060502
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) rs771036207
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891
NM_025237.3(SOST):c.*1063C>T rs1352568425
NM_025237.3(SOST):c.*1363C>T rs918885949
NM_025237.3(SOST):c.*1402T>G rs1974097858
NM_025237.3(SOST):c.*140A>G rs886052979
NM_025237.3(SOST):c.*569G>T rs1974108139
NM_025237.3(SOST):c.*689T>C rs1470510281
NM_025237.3(SOST):c.*883A>T rs1974104389
NM_025237.3(SOST):c.448G>A (p.Gly150Ser) rs548849329
NM_025237.3(SOST):c.533A>G (p.Glu178Gly) rs886052980
NM_207122.1(EXT2):c.-242G>T rs1953882206
NM_207122.2(EXT2):c.*368C>T rs886048279
NM_207122.2(EXT2):c.*672G>C rs1956079951
NM_207122.2(EXT2):c.*882G>T rs1956082516
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn) rs886048276
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) rs1955587849
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) rs200809171
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.805C>T (p.Leu269=) rs773486418
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) rs763718818

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