ClinVar Miner

List of variants studied for carcinoma by OMIM

Included ClinVar conditions (269):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 217
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.14574
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp) rs1805076 0.00712
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln) rs104893751 0.00233
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys) rs114817817 0.00101
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001166108.2(PALLD):c.1965-12616C>T rs121908291 0.00026
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) rs121434388 0.00017
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983 0.00009
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) rs121434507 0.00006
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) rs119490107 0.00003
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_138711.6(PPARG):c.857G>A (p.Arg286His) rs28936407 0.00002
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln) rs121917732 0.00001
NM_001127511.3(APC):c.-192A>G rs879253784 0.00001
NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe) rs121909071 0.00001
NM_003579.4(RAD54L):c.188C>A (p.Pro63His) rs121908688 0.00001
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg) rs121908690 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_020762.4(SRGAP1):c.447A>C (p.Gln149His) rs781626187 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NC_000008.11:g.52623770_52685461del
NC_000016.10:g.68602418_68796011del
NC_012920.1(MT-ND1):m.3308T>C rs28358582
NM_000038.6(APC):c.1695del (p.Val566fs) rs397514032
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys) rs137854578
NM_000051.4(ATM):c.8671+2_8671+3insTA rs2137087134
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.850del (p.His284fs) rs587776836
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys) rs121913111
NM_000245.4(MET):c.3392T>C (p.Met1131Thr) rs121913668
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile) rs121913675
NM_000245.4(MET):c.3562G>T (p.Val1188Leu) rs121913669
NM_000245.4(MET):c.3583C>G (p.Leu1195Val) rs121913673
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) rs121913671
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg) rs121913677
NM_000245.4(MET):c.3750G>A (p.Met1250Ile) rs121913676
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly) rs121909237
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter) rs137853079
NM_000455.5(STK11):c.650del (p.Pro217fs) rs397518442
NM_000455.5(STK11):c.936del (p.Lys312fs) rs397518443
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.6(TP53):c.105G>T (p.Leu35Phe) rs121912661
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val) rs121434587
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu) rs121434588
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter) rs587776622
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val) rs121917731
NM_001127511.2(APC):c.[-125delA;-195A>C]
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001368894.2(PAX6):c.10+5G>C rs587776572
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter) rs121907924
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs) rs587776665
NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr) rs137853148
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs) rs864321679
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_002198.3(IRF1):c.31T>C (p.Trp11Arg) rs121912470
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002447.4(MST1R):c.917G>A (p.Arg306His) rs200046052
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) rs121434623
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs) rs587776627
NM_003842.5(TNFRSF10B):c.1150_1151dup (p.Met385fs)
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004302.5(ACVR1B):c.1159_1163del (p.Asp387fs) rs387906389
NM_004302.5(ACVR1B):c.1262-502_1392+24del rs1555162597
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile) rs180177032
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser) rs180177033
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004336.5(BUB1):c.3069del (p.His1024fs) rs587776642
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) rs267606712
NM_004360.5(CDH1):c.1590dup (p.Asn531fs) rs1555516535
NM_004360.5(CDH1):c.1711+1dup rs2152137028
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) rs121964874
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2440-396_*224delinsGGA rs2152143625
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter) rs121964875
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) rs121964876
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup) rs587776805
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) rs121908567
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu) rs119486096
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg) rs104894171
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005215.4(DCC):c.4124C>A (p.Pro1375His) rs387906555
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter) rs121912576
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter) rs121912577
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His) rs121912578
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter) rs121912579
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs) rs587776802
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn) rs137852869
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg) rs886039241
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr) rs797044990
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
NM_020975.4(RET):c.[2410G>A;2711C>G]
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) rs377767434
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) rs80069458
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) rs78935588
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) rs78347871
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.5(CDC73):c.375dup (p.Arg126fs) rs1572150584
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.85del (p.Glu29fs) rs587776560
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_138711.6(PPARG):c.466del (p.Ser156fs) rs587776687
NM_138711.6(PPARG):c.851A>C (p.Gln284Pro) rs121909242
NM_138711.6(PPARG):c.949A>T (p.Lys317Ter) rs121909243
NM_138761.4(BAX):c.121del (p.Glu41fs) rs398122840
NM_138761.4(BAX):c.121dup (p.Glu41fs) rs398122840
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) rs137852930
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) rs1595314576
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala) rs121908500
NM_198219.3(ING1):c.575C>A (p.Ala192Asp) rs121909252
NM_198219.3(ING1):c.644G>C (p.Cys215Ser) rs121909250
NM_198219.3(ING1):c.647A>G (p.Asn216Ser) rs121909251
PALB2:c.2515-1G>T rs587776417
PDGRL, 2-BP DEL
TSG101, VAL-ALA, 1162T-C
nsv1067861

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.