ClinVar Miner

List of variants studied for Fibrous dysplasia of jaw by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) rs3213501 0.79911
NM_001122681.2(SH3BP2):c.*5679T>C rs4690002 0.66062
NM_001122681.2(SH3BP2):c.*4098G>A rs9715869 0.58002
NM_001122681.2(SH3BP2):c.*2202G>C rs1263416 0.57329
NM_001122681.2(SH3BP2):c.*1067C>T rs231394 0.57252
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.36399
NM_001122681.2(SH3BP2):c.*3877G>C rs735794 0.29318
NM_001122681.2(SH3BP2):c.*634C>A rs73189445 0.25716
NM_001122681.2(SH3BP2):c.*2912C>T rs10924 0.15361
NM_001122681.2(SH3BP2):c.417C>G (p.Pro139=) rs16843413 0.12581
NM_001122681.2(SH3BP2):c.586+8G>A rs28516876 0.11718
NM_001122681.2(SH3BP2):c.*5738T>G rs12504763 0.05758
NM_001122681.2(SH3BP2):c.*6211C>T rs61791177 0.05608
NM_001122681.2(SH3BP2):c.*3638A>G rs59295582 0.05175
NM_001122681.2(SH3BP2):c.*3974G>T rs80306465 0.04309
NM_001122681.2(SH3BP2):c.*2163A>T rs170763 0.04196
NM_001122681.2(SH3BP2):c.*6618G>A rs75024596 0.03460
NM_001122681.2(SH3BP2):c.*6603G>A rs77813357 0.03455
NM_001122681.2(SH3BP2):c.*3350C>G rs114672897 0.03402
NM_001122681.2(SH3BP2):c.*6109A>G rs114105937 0.03378
NM_001122681.2(SH3BP2):c.*3015G>A rs112364375 0.03370
NM_001122681.2(SH3BP2):c.*42C>T rs115443380 0.03322
NM_001122681.2(SH3BP2):c.*2342C>T rs75702090 0.03306
NM_001122681.2(SH3BP2):c.*2579C>T rs77430059 0.03292
NM_001122681.2(SH3BP2):c.*1935C>T rs143834837 0.03270
NM_001122681.2(SH3BP2):c.*1860C>T rs149002598 0.03268
NM_001122681.2(SH3BP2):c.*2623G>T rs76564843 0.03268
NM_001122681.2(SH3BP2):c.*2012G>A rs147974238 0.03266
NM_001122681.2(SH3BP2):c.*4563A>C rs75884292 0.03266
NM_001122681.2(SH3BP2):c.*1798T>C rs116575715 0.03262
NM_001122681.2(SH3BP2):c.*6076T>C rs75261481 0.02335
NM_001122681.2(SH3BP2):c.-4-1638C>T rs78035476 0.02257
NM_001122681.2(SH3BP2):c.*7165T>G rs111574096 0.02212
NM_001122681.2(SH3BP2):c.*5162A>G rs73794814 0.01744
NM_001122681.2(SH3BP2):c.*1420C>T rs56100883 0.01691
NM_001122681.2(SH3BP2):c.*3743G>A rs114380025 0.01677
NM_001122681.2(SH3BP2):c.276C>T (p.Asn92=) rs140326137 0.01605
NM_001122681.2(SH3BP2):c.*2510A>G rs74805026 0.01513
NM_001122681.2(SH3BP2):c.*3609C>T rs139161010 0.01285
NM_001122681.2(SH3BP2):c.*4834G>A rs147679025 0.01089
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_001122681.2(SH3BP2):c.*1811G>A rs114364582 0.00821
NM_001122681.2(SH3BP2):c.171C>T (p.Cys57=) rs113748730 0.00794
NM_001122681.2(SH3BP2):c.*1318T>C rs57162329 0.00746
NM_001122681.2(SH3BP2):c.*5747T>G rs150474347 0.00607
NM_001122681.2(SH3BP2):c.*3078G>A rs189935340 0.00599
NM_001122681.2(SH3BP2):c.*2804G>A rs545230689 0.00598
NM_001122681.2(SH3BP2):c.*736C>T rs79382439 0.00536
NM_001122681.2(SH3BP2):c.1407-11T>A rs45525837 0.00513
NM_001122681.2(SH3BP2):c.*3309C>T rs150769529 0.00506
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) rs35313240 0.00443
NM_001122681.2(SH3BP2):c.*4992C>A rs142420602 0.00430
NM_001122681.2(SH3BP2):c.*7184A>G rs113482596 0.00429
NM_001122681.2(SH3BP2):c.*1656T>C rs146752554 0.00411
NM_001122681.2(SH3BP2):c.*6979A>G rs79599795 0.00411
NM_001122681.2(SH3BP2):c.*7181A>G rs143508871 0.00411
NM_001122681.2(SH3BP2):c.*5898T>A rs182077606 0.00366
NM_001122681.2(SH3BP2):c.1332G>A (p.Ser444=) rs34668322 0.00326
NM_001122681.2(SH3BP2):c.*1910C>T rs553613222 0.00319
NM_001122681.2(SH3BP2):c.*5329C>A rs183166539 0.00309
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001122681.2(SH3BP2):c.*2359A>G rs142370591 0.00296
NM_001122681.2(SH3BP2):c.*3758T>G rs567254636 0.00265
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) rs148761331 0.00261
NM_001122681.2(SH3BP2):c.*5972C>T rs75269237 0.00256
NM_001122681.2(SH3BP2):c.*830G>A rs561967879 0.00252
NM_001122681.2(SH3BP2):c.-4-1780A>C rs568447008 0.00248
NM_001122681.2(SH3BP2):c.-4-1781G>T rs548710607 0.00248
NM_001122681.2(SH3BP2):c.*4047C>T rs115450246 0.00242
NM_001122681.2(SH3BP2):c.*3155C>T rs138593399 0.00230
NM_001122681.2(SH3BP2):c.*2951C>G rs185045655 0.00222
NM_001122681.2(SH3BP2):c.*3295C>T rs572526957 0.00205
NM_001122681.2(SH3BP2):c.*4179C>T rs111890780 0.00185
NM_001122681.2(SH3BP2):c.*305C>T rs140456631 0.00176
NM_001122681.2(SH3BP2):c.*102G>T rs183257237 0.00173
NM_001122681.2(SH3BP2):c.*1679C>T rs549256215 0.00170
NM_001122681.2(SH3BP2):c.*162G>A rs61791176 0.00158
NM_001122681.2(SH3BP2):c.*4832T>G rs145350139 0.00155
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_001122681.2(SH3BP2):c.*372G>A rs556644429 0.00117
NM_001122681.2(SH3BP2):c.299A>G (p.His100Arg) rs142051964 0.00105
NM_001122681.2(SH3BP2):c.*5352T>C rs76357988 0.00101
NM_001122681.2(SH3BP2):c.*5965A>C rs556190949 0.00099
NM_001122681.2(SH3BP2):c.*2513_*2518del rs533765500 0.00092
NM_001122681.2(SH3BP2):c.*3229T>G rs886059374 0.00086
NM_001122681.2(SH3BP2):c.*4161C>T rs771475877 0.00081
NM_001122681.2(SH3BP2):c.*6705C>T rs193099027 0.00077
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00072
NM_001122681.2(SH3BP2):c.*1582C>T rs191233292 0.00070
NM_001122681.2(SH3BP2):c.239G>A (p.Arg80Gln) rs147432096 0.00061
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=) rs145235325 0.00061
NM_001122681.2(SH3BP2):c.*3175C>T rs886059372 0.00060
NM_001122681.2(SH3BP2):c.*6399_*6400insA rs1553809321 0.00054
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln) rs143129053 0.00042
NM_001122681.2(SH3BP2):c.*689C>T rs549653099 0.00034
NM_001122681.2(SH3BP2):c.*1655C>T rs563251509 0.00031
NM_001122681.2(SH3BP2):c.*5109C>T rs541832240 0.00027
NM_001122681.2(SH3BP2):c.*1361C>G rs142486836 0.00026
NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met) rs201966956 0.00025
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 0.00024
NM_001122681.2(SH3BP2):c.*5875A>G rs531267078 0.00022
NM_001122681.2(SH3BP2):c.*2917C>T rs530055437 0.00018
NM_001122681.2(SH3BP2):c.*3916C>G rs544079376 0.00016
NM_001122681.2(SH3BP2):c.*821A>G rs886059362 0.00016
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) rs199818232 0.00015
NM_001122681.2(SH3BP2):c.*6136A>C rs566113870 0.00014
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001122681.2(SH3BP2):c.79G>A (p.Val27Met) rs200207198 0.00013
NM_001122681.2(SH3BP2):c.*1116C>T rs760035123 0.00012
NM_001122681.2(SH3BP2):c.*5996C>T rs570387883 0.00011
NM_001122681.2(SH3BP2):c.*3383C>T rs886059375 0.00010
NM_001122681.2(SH3BP2):c.518-15C>G rs147331573 0.00010
NM_001122681.2(SH3BP2):c.1624G>A (p.Val542Met) rs201983777 0.00009
NM_001122681.2(SH3BP2):c.*3560C>T rs766523218 0.00007
NM_001122681.2(SH3BP2):c.*4776T>C rs886059380 0.00006
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) rs529543434 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713 0.00006
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=) rs774809755 0.00006
NM_001122681.2(SH3BP2):c.*2464T>C rs886059366 0.00005
NM_001122681.2(SH3BP2):c.*6660A>G rs886059390 0.00004
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00004
NM_001122681.2(SH3BP2):c.1488+7G>A rs113327530 0.00004
NM_001122681.2(SH3BP2):c.528C>T (p.His176=) rs138986397 0.00004
NM_001122681.2(SH3BP2):c.*1947C>T rs770509235 0.00003
NM_001122681.2(SH3BP2):c.*5583G>A rs886059383 0.00003
NM_001122681.2(SH3BP2):c.*6037T>C rs886059385 0.00003
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) rs567769591 0.00003
NM_001122681.2(SH3BP2):c.517+5G>A rs367984149 0.00003
NM_001122681.2(SH3BP2):c.*128T>C rs886059359 0.00002
NM_001122681.2(SH3BP2):c.*1489G>A rs886059364 0.00002
NM_001122681.2(SH3BP2):c.*3387G>A rs886059376 0.00002
NM_001122681.2(SH3BP2):c.*6061G>C rs886059386 0.00002
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00002
NM_001122681.2(SH3BP2):c.*3106A>T rs886059369 0.00001
NM_001122681.2(SH3BP2):c.*3111C>G rs886059370 0.00001
NM_001122681.2(SH3BP2):c.*3667G>A rs886059377 0.00001
NM_001122681.2(SH3BP2):c.*5992A>G rs547319657 0.00001
NM_001122681.2(SH3BP2):c.*882C>T rs574313523 0.00001
NM_001122681.2(SH3BP2):c.*88T>C rs886059358 0.00001
NM_001122681.2(SH3BP2):c.-4-1590C>T rs372664062 0.00001
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) rs758096402 0.00001
NM_001122681.2(SH3BP2):c.213C>T (p.Gly71=) rs553536573 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001
NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=) rs770692755 0.00001
NM_001122681.2(SH3BP2):c.*1401C>T rs886059363
NM_001122681.2(SH3BP2):c.*2353CT[1] rs886059365
NM_001122681.2(SH3BP2):c.*2471G>T rs549117793
NM_001122681.2(SH3BP2):c.*2485T>C rs536625304
NM_001122681.2(SH3BP2):c.*2574G>A rs886059367
NM_001122681.2(SH3BP2):c.*2665C>G rs886059368
NM_001122681.2(SH3BP2):c.*3132TCT[1] rs753767983
NM_001122681.2(SH3BP2):c.*3220T>C rs886059373
NM_001122681.2(SH3BP2):c.*3911C>T rs886059378
NM_001122681.2(SH3BP2):c.*415G>A rs886059360
NM_001122681.2(SH3BP2):c.*4329_*4330del rs571870071
NM_001122681.2(SH3BP2):c.*4817_*4818dup rs397878760
NM_001122681.2(SH3BP2):c.*4818dup rs397878760
NM_001122681.2(SH3BP2):c.*5322TCTTTT[2] rs886059381
NM_001122681.2(SH3BP2):c.*5496A>T rs886059382
NM_001122681.2(SH3BP2):c.*5613C>T rs886059384
NM_001122681.2(SH3BP2):c.*5738dup rs1553809216
NM_001122681.2(SH3BP2):c.*618G>A rs886059361
NM_001122681.2(SH3BP2):c.*6419_*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6580del rs886059389
NM_001122681.2(SH3BP2):c.*6592G>C rs79866849
NM_001122681.2(SH3BP2):c.*6592G>T rs79866849
NM_001122681.2(SH3BP2):c.*6928T>C rs886059391
NM_001122681.2(SH3BP2):c.*7166_*7167del rs566926916
NM_001122681.2(SH3BP2):c.*7167del rs566926916
NM_001122681.2(SH3BP2):c.*7167dup rs566926916
NM_001122681.2(SH3BP2):c.*742C>A rs535270976
NM_001122681.2(SH3BP2):c.1280_1282del (p.Ser427del) rs771719677
NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=) rs886059357
NM_001122681.2(SH3BP2):c.357+15G>T rs62620003
NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro) rs886059355
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) rs745515987

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