ClinVar Miner

List of variants reported as uncertain significance for adenocarcinoma by Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_144991.3(TSPEAR):c.303+9076A>G rs452472 0.27108
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_001253772.2(SYT6):c.1471G>A (p.Ala491Thr) rs142164979 0.00030
NM_020923.3(ZDBF2):c.5795G>A (p.Arg1932His) rs763186071 0.00006
NM_001161630.1(KDM4E):c.1493A>G (p.Asn498Ser) rs869025228 0.00004
NM_018023.5(YEATS2):c.3131C>T (p.Pro1044Leu) rs376025260 0.00003
NM_001144.6(AMFR):c.1786C>T (p.Arg596Cys) rs869025244 0.00001
NM_003683.6(RRP1):c.340C>T (p.Arg114Cys) rs763767114 0.00001
NM_015297.3(PHF24):c.242G>A (p.Arg81Gln) rs374394658 0.00001
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys) rs761025927 0.00001
GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3
GRCh37/hg19 10p11.23(chr10:30728036-30900919)x3
GRCh37/hg19 10p12.1(chr10:27326892-27356151)x3
GRCh37/hg19 10p12.31-12.2(chr10:22193496-22634700)x3
GRCh37/hg19 10p12.33-12.31(chr10:18439858-20357134)x3
GRCh37/hg19 10q23.33(chr10:94368870-94715405)x3
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3
GRCh37/hg19 11p15.4(chr11:9042668-9165735)x3
GRCh37/hg19 11p15.5(chr11:850336-1491561)x1
GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3
GRCh37/hg19 11q21(chr11:94696615-95528715)x3
GRCh37/hg19 11q23.1(chr11:111735939-111784393)x3
GRCh37/hg19 11q23.1(chr11:111789713-111857622)x4
GRCh37/hg19 11q23.3(chr11:120169037-120308055)x3
GRCh37/hg19 11q24.2(chr11:124824717-124951727)x3
GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3
GRCh37/hg19 12p13.32(chr12:4627993-4665594)x3
GRCh37/hg19 12q12-13.11(chr12:46325342-46765019)x3
GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3
GRCh37/hg19 12q21.2(chr12:76763038-76780400)x4
GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3
GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3
GRCh37/hg19 12q24.21(chr12:115109877-115120812)x4
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
GRCh37/hg19 14q11.2(chr14:20922785-20937690)x3
GRCh37/hg19 14q13.3-21.1(chr14:37145530-38064142)x4
GRCh37/hg19 14q32.33(chr14:105936477-105995652)x3
GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3
GRCh37/hg19 15q15.3-21.1(chr15:44791968-44852484)x3
GRCh37/hg19 15q23(chr15:69079813-72040847)x3
GRCh37/hg19 15q26.1(chr15:90770832-90777093)x3
GRCh37/hg19 15q26.1(chr15:90931601-90976990)x3
GRCh37/hg19 15q26.1(chr15:91475054-91478581)x3
GRCh37/hg19 15q26.1(chr15:93198718-93536159)x3
GRCh37/hg19 15q26.2-26.3(chr15:96869560-99486217)x3
GRCh37/hg19 16p11.2(chr16:29814850-29830976)x4
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3
GRCh37/hg19 16p11.2(chr16:30386180-30390806)x5
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3
GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3
GRCh37/hg19 16p13.3(chr16:324072-705832)x3
GRCh37/hg19 16p13.3(chr16:706802-772110)x4
GRCh37/hg19 16p13.3(chr16:772433-857560)x3
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3
GRCh37/hg19 16p13.3(chr16:97494-323799)x3
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3
GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1
GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1
GRCh37/hg19 17p11.2(chr17:16052798-16062131)x4
GRCh37/hg19 17p11.2(chr17:17718204-17726877)x3
GRCh37/hg19 17p12(chr17:11887472-12044521)x3
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3
GRCh37/hg19 17p13.1(chr17:7736464-7798352)x3
GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3
GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3
GRCh37/hg19 18p11.21-q11.1(chr18:14748529-18690826)x3
GRCh37/hg19 18q12.2(chr18:33611007-33722860)x4
GRCh37/hg19 19p13.2(chr19:7682488-7698319)x3
GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1
GRCh37/hg19 19p13.3(chr19:1236038-1272435)x3
GRCh37/hg19 19p13.3(chr19:1997403-2076912)x3
GRCh37/hg19 19p13.3(chr19:5679382-5694843)x3
GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3
GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3
GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3
GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1
GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3
GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1
GRCh37/hg19 19q13.42(chr19:54647215-54705417)x3
GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1
GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3
GRCh37/hg19 1p13.3(chr1:108115974-108313305)x3
GRCh37/hg19 1p31.1(chr1:84610138-84650825)x6
GRCh37/hg19 1p31.1-22.3(chr1:84662362-85035719)x3
GRCh37/hg19 1p31.3(chr1:61543299-61548462)x7
GRCh37/hg19 1p31.3(chr1:67327908-67519596)x3
GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1
GRCh37/hg19 1p36.22(chr1:11850846-11867218)x3
GRCh37/hg19 1q21.1(chr1:145438928-145527669)x3
GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3
GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3
GRCh37/hg19 1q21.3(chr1:153412418-153604246)x3
GRCh37/hg19 1q21.3(chr1:153742283-153752391)x3
GRCh37/hg19 1q23.2(chr1:160111098-160183245)x3
GRCh37/hg19 1q41(chr1:215747156-215751043)x5
GRCh37/hg19 20p11.21(chr20:25284225-25371245)x3
GRCh37/hg19 20p11.23(chr20:19662569-20003113)x3
GRCh37/hg19 20p12.1(chr20:13714429-13789519)x3
GRCh37/hg19 20q13.12(chr20:43955980-44053178)x3
GRCh37/hg19 20q13.33(chr20:58444946-58533817)x3
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1
GRCh37/hg19 22q13.33(chr22:50318056-50356682)x4
GRCh37/hg19 22q13.33(chr22:50318056-50437748)x3
GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3
GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3
GRCh37/hg19 2p13.2(chr2:71595585-71645751)x3
GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3
GRCh37/hg19 2p16.2(chr2:53995091-54042035)x3
GRCh37/hg19 2q31.1(chr2:170009392-170072852)x3
GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3
GRCh37/hg19 2q31.3-32.1(chr2:182756899-183051256)x4
GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3
GRCh37/hg19 2q35(chr2:219221864-219423299)x3
GRCh37/hg19 2q37.3(chr2:238305415-238742983)x3
GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3
GRCh37/hg19 3p21.31(chr3:49758015-49829191)x3
GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3
GRCh37/hg19 3p26.1(chr3:4706901-5216065)x3
GRCh37/hg19 3p26.1(chr3:4726822-5164213)x4
GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3
GRCh37/hg19 3q29(chr3:193333511-194338436)x3
GRCh37/hg19 4q13.2(chr4:68488897-68562395)x3
GRCh37/hg19 4q24(chr4:104035661-104119449)x3
GRCh37/hg19 4q32.3(chr4:169325195-169379102)x3
GRCh37/hg19 4q33(chr4:170482863-170581561)x4
GRCh37/hg19 4q34.1(chr4:173873299-174090050)x4
GRCh37/hg19 4q34.1(chr4:174254726-174298418)x4
GRCh37/hg19 5p13.2(chr5:37000955-37014827)x4
GRCh37/hg19 5q12.1(chr5:60240797-61658323)x3
GRCh37/hg19 5q12.3(chr5:64817329-64847428)x7
GRCh37/hg19 5q14.3(chr5:85913910-87524304)x3
GRCh37/hg19 5q23.1-23.2(chr5:121297746-121406237)x4
GRCh37/hg19 5q23.2(chr5:121409786-122337117)x3
GRCh37/hg19 5q23.3(chr5:127469912-127522256)x3
GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3
GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3
GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3
GRCh37/hg19 6p21.33(chr6:30698482-30853003)x3
GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3
GRCh37/hg19 6p22.1(chr6:30029374-30036983)x3
GRCh37/hg19 6p22.2(chr6:26020923-26056336)x4
GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4
GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3
GRCh37/hg19 6q22.31(chr6:123319117-123837319)x3
GRCh37/hg19 6q27(chr6:167412952-167447412)x3
GRCh37/hg19 7q11.22(chr7:70163581-70255359)x4
GRCh37/hg19 7q11.23(chr7:73122969-73256410)x3
GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3
GRCh37/hg19 7q21.3(chr7:92818582-92963470)x3
GRCh37/hg19 7q21.3(chr7:94156496-94285902)x3
GRCh37/hg19 7q36.1(chr7:149174751-149523266)x1
GRCh37/hg19 8p11.22(chr8:39645687-39694694)x4
GRCh37/hg19 8p22(chr8:17793168-18457910)x3
GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3
GRCh37/hg19 9q21.2(chr9:79816302-79908341)x3
GRCh37/hg19 9q22.31(chr9:95051642-95264865)x3
GRCh37/hg19 9q33.2(chr9:123939453-123954476)x4
GRCh38/hg38 12p13.2(chr12:12198797-12200966)x1
GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1
GRCh38/hg38 15q25.2(chr15:82663590-82826799)x1
GRCh38/hg38 16q12.1(chr16:47497444-48230506)x1
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1
GRCh38/hg38 16q22.2(chr16:70855202-71067341)x1
GRCh38/hg38 16q22.2(chr16:72059151-72063259)x0
GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1
GRCh38/hg38 19p13.3(chr19:1453072-1481984)x1
GRCh38/hg38 19p13.3(chr19:1508507-1510399)x0
GRCh38/hg38 19q13.12(chr19:35778321-35862983)x1
GRCh38/hg38 1p36.11(chr1:26519016-26520363)x0
GRCh38/hg38 1p36.12(chr1:20810811-20829210)x0
GRCh38/hg38 1p36.21(chr1:13272807-13275727)x1
GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1
GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1
GRCh38/hg38 20p13(chr20:3672810-3673617)x1
GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1
GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1
GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1
GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1
GRCh38/hg38 6p12.2(chr6:52751643-52757905)x1
GRCh38/hg38 6p24.2(chr6:10887131-11044230)x1
GRCh38/hg38 9q34.3(chr9:135665886-135775364)x1
NM_000435.3(NOTCH3):c.5161T>A (p.Trp1721Arg) rs869025230
NM_000698.5(ALOX5):c.490T>G (p.Leu164Val) rs869025237
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) rs373996684
NM_001131034.4(RNF212):c.314T>C (p.Leu105Ser) rs869025240
NM_001282663.2(MICAL2):c.3131A>G (p.Asp1044Gly) rs869025227
NM_003488.4(AKAP1):c.946GGCTTGGATAGAAATGAGGAG[1] (p.316GLDRNEE[1]) rs746089021
NM_003902.5(FUBP1):c.1611G>A (p.Trp537Ter) rs869025239
NM_004491.5(ARHGAP35):c.1959_1960delinsAA (p.Pro654Thr) rs869312173
NM_004616.3(TSPAN8):c.528T>A (p.Asp176Glu) rs869025229
NM_004744.5(LRAT):c.78T>A (p.Ser26Arg) rs869025235
NM_006183.5(NTS):c.185G>A (p.Cys62Tyr) rs869025243
NM_006269.2(RP1):c.5001del (p.Arg1668fs) rs869320622
NM_006368.5(CREB3):c.823T>G (p.Tyr275Asp) rs869025236
NM_013247.5(HTRA2):c.695T>A (p.Leu232Gln) rs869025234
NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs) rs869312174
NM_015428.4(ZNF473):c.2359A>T (p.Arg787Ter) rs869025232
NM_015692.5(CPAMD8):c.4015G>A (p.Ala1339Thr) rs869025231
NM_020297.4(ABCC9):c.2663G>T (p.Gly888Val) rs869025242
NM_020348.3(CNNM1):c.957G>C (p.Glu319Asp) rs869025226
NM_020893.6(CCDC180):c.1843C>G (p.Pro615Ala) rs869025225
NM_032229.3(SLITRK6):c.1915dup (p.Tyr639fs) rs869312872
NM_032854.4(CORO6):c.1348G>A (p.Val450Met) rs772136445
NM_033238.3(PML):c.2264G>C (p.Arg755Pro) rs780746013
NM_144689.5(ZNF420):c.362A>G (p.Asn121Ser) rs771433810
NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter) rs869025238
NM_175884.6(CCDC71L):c.478A>C (p.Ser160Arg) rs869025233
NM_198148.3(CPXM2):c.497G>A (p.Gly166Glu) rs869025241
Single allele
chr11:1092954..1857751 complex variant
chr12:10074776-18800953 complex variant
chr12:4920767-5603935 complex variant
chr14:104643721..105932775 complex variant
chr17:45008570..45994044 complex variant
chr19:19230868-24115369 complex variant
chr19:36674305-38652962 complex variant
chr19:44501518-45322744 complex variant
chr19:54754752-55624113 complex variant
chr19:55143156-55294969 complex variant
chr19:56133299..57648277 complex variant
chr1:16902894-17264939 complex variant
chr1:17555508-24706269 complex variant
chr1:248525146-248525657 complex variant
chr1:909238-16736132 complex variant
chr20:60885242-61929348 complex variant
chr20:61880169-61908597 complex variant
chr21:45970718..47545826 complex variant
chr2:130949553-130952725 complex variant
chr4:88537276..88537405 complex variant
chr6:29910378..30075843 complex variant
chr6:29910602..29912297 complex variant
chr6:31237124-31378388 complex variant
chr6:32609097-32629809 complex variant
chr9:21187003-21228040 complex variant

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