ClinVar Miner

List of variants studied for anaplastic cancer

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.4206+9G>T rs1778057 0.25695
NM_177438.3(DICER1):c.4680G>A (p.Ala1560=) rs61729797 0.03654
NM_177438.3(DICER1):c.3033G>A (p.Ala1011=) rs8019857 0.03643
NM_177438.3(DICER1):c.2997T>G (p.Leu999=) rs12018992 0.01764
NM_177438.3(DICER1):c.3198T>C (p.Thr1066=) rs114964211 0.01414
NM_177438.3(DICER1):c.1935G>A (p.Pro645=) rs61751177 0.00958
NM_177438.3(DICER1):c.1887G>A (p.Thr629=) rs141651702 0.00806
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_177438.3(DICER1):c.5095+13C>T rs116247322 0.00577
NM_177438.3(DICER1):c.5241G>A (p.Ser1747=) rs114861074 0.00539
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_177438.3(DICER1):c.1908-4A>G rs112284114 0.00123
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=) rs148959399 0.00123
NM_177438.3(DICER1):c.5604-12G>A rs149841885 0.00122
NM_177438.3(DICER1):c.*2359_*2360del rs200215778 0.00115
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr) rs149242330 0.00074
NM_177438.3(DICER1):c.924C>T (p.Ala308=) rs142397473 0.00070
NM_177438.3(DICER1):c.*1894C>T rs540809100 0.00041
NM_177438.3(DICER1):c.3269+14G>A rs201906274 0.00040
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys) rs373646414 0.00006
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_177438.3(DICER1):c.*1395_*1396del rs756671135 0.00005
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) rs367925756 0.00004
NM_177438.3(DICER1):c.1329C>T (p.Cys443=) rs776143079 0.00004
NM_177438.3(DICER1):c.1410G>C (p.Glu470Asp) rs774271782 0.00004
NM_177438.3(DICER1):c.1801A>G (p.Ile601Val) rs564224919 0.00004
NM_177438.3(DICER1):c.3422C>T (p.Ser1141Phe) rs780815020 0.00004
NM_001256071.3(RNF213):c.12841C>T (p.Arg4281Trp) rs765980348 0.00003
NM_177438.3(DICER1):c.4899A>G (p.Val1633=) rs878855271 0.00003
NM_006206.6(PDGFRA):c.516C>T (p.Tyr172=) rs1046079554 0.00002
NM_177438.3(DICER1):c.1377-18T>A rs1032236740 0.00002
NM_177438.3(DICER1):c.2378A>G (p.Tyr793Cys) rs527568726 0.00002
NM_177438.3(DICER1):c.4407T>C (p.Leu1469=) rs540502223 0.00002
NM_177438.3(DICER1):c.4796G>A (p.Arg1599Gln) rs569615549 0.00002
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_177438.3(DICER1):c.1770T>C (p.Cys590=) rs777355058 0.00001
NM_177438.3(DICER1):c.2553G>A (p.Gln851=) rs373715574 0.00001
NM_177438.3(DICER1):c.2718C>T (p.Arg906=) rs370692165 0.00001
NM_177438.3(DICER1):c.3229G>A (p.Asp1077Asn) rs373412959 0.00001
NM_177438.3(DICER1):c.3269+12C>T rs775380766 0.00001
NM_177438.3(DICER1):c.4675A>G (p.Ile1559Val) rs377409989 0.00001
NM_177438.3(DICER1):c.920G>A (p.Arg307His) rs149718671 0.00001
NM_177438.3(DICER1):c.925G>A (p.Val309Ile) rs1181141404 0.00001
NM_000179.3(MSH6):c.2055T>C (p.Gly685=) rs760299985
NM_000546.6(TP53):c.460_463del (p.Gly154fs) rs1567553658
NM_000546.6(TP53):c.761T>G (p.Ile254Ser) rs1330865474
NM_000551.4(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_001378902.1(ROS1):c.6079G>A (p.Asp2027Asn)
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp) rs1568504941
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_015450.3(POT1):c.910dup (p.Asp304fs)
NM_024675.4(PALB2):c.809G>T (p.Ser270Ile)
NM_177438.3(DICER1):c.*1448del rs35463377
NM_177438.3(DICER1):c.*1448dup rs35463377
NM_177438.3(DICER1):c.*1449_*1450insT rs886050934
NM_177438.3(DICER1):c.*1716TG[1] rs35500699
NM_177438.3(DICER1):c.*2379dup rs140355178
NM_177438.3(DICER1):c.*2751GAT[1] rs573135025
NM_177438.3(DICER1):c.*2964del rs537009606
NM_177438.3(DICER1):c.*326del rs35649919
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.3(DICER1):c.1510-4del rs546524688
NM_177438.3(DICER1):c.1510-4dup rs546524688
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.1908-138_2804+645del
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
NM_177438.3(DICER1):c.2154G>C (p.Glu718Asp) rs1555371628
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu) rs1595391071
NM_177438.3(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2613C>T (p.Asp871=) rs759827733
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter) rs1060503605
NM_177438.3(DICER1):c.3093+1G>A
NM_177438.3(DICER1):c.3094-8_3094-5del rs770904411
NM_177438.3(DICER1):c.3357T>A (p.Asp1119Glu)
NM_177438.3(DICER1):c.4206+7_4206+8dup rs1555368535
NM_177438.3(DICER1):c.4206+9_4206+21delinsT rs886050941
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_177438.3(DICER1):c.4374G>A (p.Met1458Ile) rs1488281692
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=) rs1890331241
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.4807C>T (p.Leu1603=) rs201320420
NM_177438.3(DICER1):c.4849del (p.Leu1617fs)
NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu) rs1060503639
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu) rs749900564
NM_177438.3(DICER1):c.5365-4A>G
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) rs1595314576
NM_177438.3(DICER1):c.5527+3A>G rs1595313951
NM_177438.3(DICER1):c.5670del (p.Phe1890fs)
NM_177438.3(DICER1):c.625A>G (p.Ile209Val) rs2140260977
NM_177438.3(DICER1):c.906dup (p.Leu303fs)
NM_177438.3(DICER1):c.968G>T (p.Gly323Val) rs906299601
NM_198253.3(TERT):c.-146C>T
inv(22)(q12.2q12.2)

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.