ClinVar Miner

List of variants reported as benign for bone cancer

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T rs11702841 0.99999
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_002609.4(PDGFRB):c.3137+4A>G rs246391 0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388 0.36918
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395 0.26470
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_004364.5(CEBPA):c.690G>T (p.Thr230=) rs34529039 0.16355
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440 0.09078
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=) rs61750222 0.04709
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663 0.02433
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_004364.5(CEBPA):c.573C>T (p.His191=) rs192240793 0.02004
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001754.5(RUNX1):c.927C>T (p.Gly309=) rs59802347 0.01119
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515 0.00869
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) rs550308123 0.00808
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) rs571969199 0.00778
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) rs141430731 0.00752
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_002609.4(PDGFRB):c.365-4G>T rs139448702 0.00583
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689 0.00523
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_001754.5(RUNX1):c.183G>A (p.Pro61=) rs76558016 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_004364.5(CEBPA):c.612G>C (p.Pro204=) rs552634598 0.00214
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_001754.5(RUNX1):c.1086G>C (p.Ser362=) rs143947839 0.00072
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_001754.5(RUNX1):c.654C>T (p.Ser218=) rs145230602 0.00063
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) rs538441046 0.00022
NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro) rs756632245 0.00015
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002834.5(PTPN11):c.486C>T (p.Asp162=) rs397507522 0.00009
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
NM_004364.5(CEBPA):c.459G>A (p.Pro153=) rs779373951 0.00001
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_000546.6(TP53):c.805A>T (p.Ser269Cys)
NM_000546.6(TP53):c.952C>T (p.Pro318Ser)
NM_000546.6(TP53):c.954A>T (p.Pro318=)
NM_000546.6(TP53):c.969G>C (p.Leu323=)
NM_000546.6(TP53):c.970G>A (p.Asp324Asn)
NM_000546.6(TP53):c.978A>G (p.Glu326=)
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_003025.4(SH3GL1):c.771C>G (p.Pro257=) rs243261
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1566-3del rs780125200
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp) rs198977

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