ClinVar Miner

List of variants reported as uncertain significance for bone osteosarcoma

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_000546.6(TP53):c.214C>G (p.Pro72Ala) rs587782769 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) rs974956317 0.00002
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) rs761609284 0.00002
NM_000321.3(RB1):c.897T>A (p.Phe299Leu) rs772362181 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu) rs1060502702 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.352A>T (p.Thr118Ser) rs1429553692 0.00001
NM_000321.3(RB1):c.536G>T (p.Ser179Ile) rs1566187849 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) rs483352697 0.00001
NM_000546.6(TP53):c.604C>T (p.Arg202Cys) rs587780072 0.00001
NM_000546.6(TP53):c.649G>A (p.Val217Met) rs35163653 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) rs199859140 0.00001
NM_007194.4(CHEK2):c.1096-6T>G rs1180195480 0.00001
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682 0.00001
NM_007194.4(CHEK2):c.1282T>C (p.Ser428Pro) rs1182200321 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1462-12A>G rs1339529482 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) rs587778193 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) rs1064795532 0.00001
NM_000321.3(RB1):c.1264A>G (p.Ile422Val)
NM_000321.3(RB1):c.1285A>C (p.Lys429Gln)
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.2017C>T (p.His673Tyr)
NM_000321.3(RB1):c.2482A>G (p.Arg828Gly)
NM_000321.3(RB1):c.2678G>T (p.Gly893Val)
NM_000321.3(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000321.3(RB1):c.339G>A (p.Met113Ile) rs1593434250
NM_000321.3(RB1):c.45_53dup (p.Ala16_Ala18dup) rs572454921
NM_000321.3(RB1):c.644C>T (p.Ser215Leu) rs768305224
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000546.6(TP53):c.1080G>T (p.Gly360=) rs2150994011
NM_000546.6(TP53):c.110C>T (p.Ser37Phe) rs1567557177
NM_000546.6(TP53):c.11C>G (p.Pro4Arg) rs878854064
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.6(TP53):c.412G>A (p.Ala138Thr) rs28934875
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.875A>C (p.Lys292Thr) rs121912663
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.132C>A (p.Ser44Arg)
NM_007194.4(CHEK2):c.134C>A (p.Thr45Lys)
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1406T>A (p.Val469Glu) rs763344790
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.1501G>C (p.Glu501Gln)
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.319+5G>T rs730881698
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) rs369256181
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys) rs745475247
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp) rs778212685
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val) rs730881685
NM_007194.4(CHEK2):c.710C>T (p.Ala237Val) rs878854921
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del) rs1601783129
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr) rs1601777776
NM_007194.4(CHEK2):c.844C>G (p.His282Asp)
NM_007194.4(CHEK2):c.866A>T (p.Lys289Ile) rs1555916997
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val) rs587780192
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193

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