ClinVar Miner

List of variants reported as likely pathogenic for bone cancer by Database of Curated Mutations (DoCM)

Included ClinVar conditions (72):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491 0.00003
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186 0.00003
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427 0.00001
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000215.4(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) rs1057519776
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe) rs1057519763
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2506A>G (p.Ile836Val) rs1057519726
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.3(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu) rs368927897
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn) rs1057520016
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) rs121913450
NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) rs121913452
NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) rs121913452
NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) rs121913452
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) rs1057519775
NM_005157.6(ABL1):c.1187A>G (p.His396Arg) rs121913454
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) rs387906517
NM_005157.6(ABL1):c.730A>G (p.Met244Val) rs121913456
NM_005157.6(ABL1):c.742C>G (p.Leu248Val) rs121913455
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) rs121913453
NM_005157.6(ABL1):c.756G>C (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.756G>T (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) rs121913460
NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) rs121913448
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) rs121913449
NM_005157.6(ABL1):c.847T>G (p.Phe283Val) rs1057519758
NM_005157.6(ABL1):c.895G>C (p.Val299Leu) rs1057519771
NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) rs1057519772
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) rs1057519773
NM_005157.6(ABL1):c.949T>G (p.Phe317Val) rs1057519773
NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) rs1057519774
NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) rs121913451
NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) rs121913451
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005373.3(MPL):c.1513A>T (p.Ser505Cys) rs1057519752
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_006758.3(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629

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