ClinVar Miner

List of variants studied for bone Paget disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
NM_002546.4(TNFRSF11B):c.401-5T>C rs3134046 0.93049
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_003900.5(SQSTM1):c.*1322G>T rs1065154 0.67053
NM_003900.5(SQSTM1):c.*1138T>C rs10277 0.64148
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_002546.4(TNFRSF11B):c.9C>G (p.Asn3Lys) rs2073618 0.60108
NM_002546.3(TNFRSF11B):c.-223C>T rs2073617 0.57443
NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val) rs1805034 0.56701
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033 0.28610
NM_003839.4(TNFRSF11A):c.-39G>A rs7238731 0.28496
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr) rs35211496 0.12362
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_002546.4(TNFRSF11B):c.768A>G (p.Leu256=) rs2228568 0.09806
NM_002546.4(TNFRSF11B):c.400+4C>T rs1564858 0.09777
NM_002546.4(TNFRSF11B):c.817+8A>C rs7844539 0.09748
NM_002546.4(TNFRSF11B):c.30+15C>T rs3102734 0.09631
NM_002546.4(TNFRSF11B):c.*367G>A rs7815884 0.08889
NM_002546.4(TNFRSF11B):c.1150T>C (p.Leu384=) rs1804854 0.08839
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_002546.4(TNFRSF11B):c.31-7C>T rs10505344 0.05640
NM_003900.5(SQSTM1):c.*539T>G rs1060271 0.04634
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_002546.4(TNFRSF11B):c.*583T>A rs7815440 0.03482
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=) rs10058037 0.03284
NM_002546.4(TNFRSF11B):c.714G>A (p.Glu238=) rs11573930 0.02453
NM_003839.4(TNFRSF11A):c.75+5G>A rs146553439 0.02406
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=) rs11548642 0.01636
NM_003839.4(TNFRSF11A):c.*668G>T rs78622775 0.01625
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_003900.5(SQSTM1):c.*279C>G rs11548631 0.01439
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys) rs61748794 0.01418
NM_003900.5(SQSTM1):c.-25G>A rs74523483 0.01321
NM_003900.5(SQSTM1):c.*786G>A rs73334055 0.01186
NM_016175.4(MRNIP):c.729C>T (p.Asp243=) rs61742526 0.01155
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00943
NM_002546.4(TNFRSF11B):c.*545T>C rs11573947 0.00754
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr) rs61751992 0.00618
NM_003900.5(SQSTM1):c.*83G>A rs155790 0.00589
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_002546.4(TNFRSF11B):c.558C>T (p.Ser186=) rs11573923 0.00484
NM_002546.3(TNFRSF11B):c.-284C>T rs11575929 0.00457
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) rs11573942 0.00387
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_002546.4(TNFRSF11B):c.*67C>T rs11573944 0.00356
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_003839.4(TNFRSF11A):c.*2077G>T rs75853662 0.00278
NM_002546.3(TNFRSF11B):c.-257G>T rs368831724 0.00255
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00239
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 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_003900.5(SQSTM1):c.*1394C>T rs182968597 0.00169
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_003900.5(SQSTM1):c.*710G>C rs149508576 0.00097
NM_003900.5(SQSTM1):c.*175T>G rs186996560 0.00091
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
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_002546.4(TNFRSF11B):c.841G>A (p.Val281Met) rs140782326 0.00076
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_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00057
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_002546.4(TNFRSF11B):c.*609G>A rs529941362 0.00052
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
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_016175.4(MRNIP):c.993C>T (p.Asp331=) rs148611524 0.00041
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 0.00032
NM_003900.5(SQSTM1):c.-18G>A rs370874635 0.00031
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=) rs200388590 0.00026
NM_003839.4(TNFRSF11A):c.*125T>C rs528975442 0.00024
NM_003839.4(TNFRSF11A):c.*126C>T rs548628692 0.00024
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_002546.4(TNFRSF11B):c.310G>A (p.Val104Met) rs11573906 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_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_003900.5(SQSTM1):c.*66A>C rs140407570 0.00016
NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn) rs150777320 0.00014
NM_002546.4(TNFRSF11B):c.21C>T (p.Cys7=) rs373330021 0.00014
NM_003900.5(SQSTM1):c.*1336C>T rs199862884 0.00014
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_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) rs757543096 0.00011
NM_003839.4(TNFRSF11A):c.1567+7G>A rs35332936 0.00011
NM_003900.5(SQSTM1):c.*1353C>T rs1436678583 0.00011
NM_003900.5(SQSTM1):c.*82C>T rs11548622 0.00011
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_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_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_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_003839.4(TNFRSF11A):c.*223G>A rs886054086 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
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_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_003900.5(SQSTM1):c.301+12C>G rs141530539 0.00003
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_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.*2086G>A rs528958493 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.*1111G>C rs199887787 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_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.419_420del (p.Thr140fs)
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.*1251dup rs150401931
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
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.*320del rs552069161
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.*633C>G rs184568614
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_003839.4(TNFRSF11A):c.*634_*635dup rs142942284
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.*938T>C rs565315471
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_003900.4(SQSTM1):c.-35G>C rs189132632
NM_003900.5(SQSTM1):c.*1235T>C rs886060508
NM_003900.5(SQSTM1):c.*1299GA[1] rs745365806
NM_003900.5(SQSTM1):c.*175TG[8] rs10688915
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

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