ClinVar Miner

List of variants reported as benign for embryonal neoplasm by Illumina Laboratory Services, Illumina

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.*298C>T rs1728828 0.99040
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99030
NM_004304.5(ALK):c.27C>G (p.Leu9=) rs4358080 0.88526
NM_004304.5(ALK):c.1500A>G (p.Gln500=) rs2293564 0.79300
NM_004304.5(ALK):c.2535T>C (p.Gly845=) rs2256740 0.63034
NM_001365951.3(KIF1B):c.*2042C>T rs1536262 0.55000
NM_015074.3(KIF1B):c.*5019T>C rs3748581 0.53815
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_024426.6(WT1):c.*602A>G rs5030320 0.45163
NM_024426.6(WT1):c.*267G>C rs5030317 0.44381
NM_003924.4(PHOX2B):c.*1364G>A rs6826373 0.43664
NM_001365951.3(KIF1B):c.*3911A>G rs1138791 0.35950
NM_001365951.3(KIF1B):c.*2247G>A rs1002076 0.32846
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_004304.5(ALK):c.3375C>A (p.Gly1125=) rs3795850 0.27292
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420 0.26767
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_003924.4(PHOX2B):c.*1387C>T rs11723860 0.26435
NM_004304.5(ALK):c.3359+6C>T rs4622670 0.24182
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_016169.4(SUFU):c.*1122C>T rs11596235 0.23724
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_016169.4(SUFU):c.*2585T>C rs11191355 0.20858
NM_004304.5(ALK):c.4165-6C>T rs17007646 0.20768
NM_004304.5(ALK):c.3036G>A (p.Thr1012=) rs2293563 0.17851
NM_016169.4(SUFU):c.*2668C>T rs11594179 0.17207
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_003924.4(PHOX2B):c.*674dup rs397840867 0.15674
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_016169.4(SUFU):c.*1373C>T rs17114808 0.14776
NM_024426.6(WT1):c.*88A>G rs5030315 0.14706
NM_016169.4(SUFU):c.*391A>G rs2298278 0.14670
NM_016169.4(SUFU):c.1299T>C (p.Ile433=) rs17114803 0.14628
NM_016169.4(SUFU):c.*1715A>G rs11818043 0.14606
NM_016169.4(SUFU):c.*1633C>T rs17114810 0.14323
NM_024426.6(WT1):c.*224A>G rs5030316 0.13669
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_004304.5(ALK):c.4338C>T (p.Thr1446=) rs56132472 0.10831
NM_001365951.3(KIF1B):c.*1159G>A rs4240913 0.09825
NM_001365951.3(KIF1B):c.*1133C>T rs4240912 0.09823
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_003073.5(SMARCB1):c.-117C>T rs11090285 0.08005
NM_016169.4(SUFU):c.-178C>T rs113962600 0.05045
NM_003924.4(PHOX2B):c.*1662A>T rs1063611 0.04731
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_003924.4(PHOX2B):c.*1347A>G rs62412180 0.04283
NM_001365951.3(KIF1B):c.*2661A>T rs6694522 0.03958
NM_001365951.3(KIF1B):c.*1361A>T rs2847347 0.03872
NM_003924.4(PHOX2B):c.*600T>G rs73139116 0.03760
NM_001365951.3(KIF1B):c.*4392A>G rs72867441 0.03534
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.-208G>C rs146663377 0.03420
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_024426.6(WT1):c.*820G>C rs1042347 0.03223
NM_001365951.3(KIF1B):c.*3154A>G rs41310365 0.03073
NM_001365951.3(KIF1B):c.-80+1G>T rs140240544 0.02890
NM_001365951.3(KIF1B):c.*1118G>A rs7544928 0.02869
NM_004304.5(ALK):c.3408C>T (p.Ser1136=) rs56146053 0.02769
NM_004304.5(ALK):c.*53G>C rs80088378 0.02692
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491 0.02566
NM_024426.6(WT1):c.*1132A>T rs5030328 0.02340
NM_024426.6(WT1):c.*835A>G rs5030322 0.02303
NM_001365951.3(KIF1B):c.-136C>T rs181820595 0.02054
NM_004304.5(ALK):c.4596C>T (p.Asn1532=) rs1881422 0.01874
NM_001365951.3(KIF1B):c.*2698G>A rs115172954 0.01866
NM_004304.5(ALK):c.4203T>C (p.Tyr1401=) rs55772745 0.01865
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_004304.5(ALK):c.*111C>T rs74669215 0.01748
NM_004304.5(ALK):c.*63A>G rs182561050 0.01679
NM_001365951.3(KIF1B):c.*2869C>T rs3748580 0.01676
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_003924.4(PHOX2B):c.*1381C>T rs59260453 0.01423
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.*4267A>G rs77474900 0.01073
NM_001365951.3(KIF1B):c.*712G>A rs146717943 0.01069
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_003924.4(PHOX2B):c.*161G>A rs114290493 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_024426.6(WT1):c.*1209A>G rs5030329 0.00900
NM_004304.5(ALK):c.645T>C (p.Leu215=) rs115392387 0.00889
NM_024426.6(WT1):c.*1098C>T rs5030327 0.00867
NM_016169.4(SUFU):c.*118C>T rs2298277 0.00835
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_001365951.3(KIF1B):c.*279C>T rs78490707 0.00800
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_004304.5(ALK):c.2175C>T (p.Ile725=) rs57881134 0.00677
NM_001365951.3(KIF1B):c.*4894T>C rs77885116 0.00664
NM_004304.5(ALK):c.2133C>T (p.Ser711=) rs77102810 0.00647
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_003924.4(PHOX2B):c.*80G>A rs75913938 0.00612
NM_001365951.3(KIF1B):c.*1503C>T rs116167243 0.00570
NM_001365951.3(KIF1B):c.*3742T>C rs78868210 0.00563
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_001365951.3(KIF1B):c.*3341C>T rs139210251 0.00535
NM_003073.5(SMARCB1):c.-31C>T rs34276473 0.00535
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_024426.6(WT1):c.*16G>T rs2234594 0.00421
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_003924.4(PHOX2B):c.*278T>A rs73810341 0.00395
NM_024426.6(WT1):c.*903G>A rs5030325 0.00370
NM_004304.5(ALK):c.4836G>A (p.Lys1612=) rs78174819 0.00363
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_003924.4(PHOX2B):c.*1126C>G rs118046131 0.00341
NM_001365951.3(KIF1B):c.*2732G>C rs190725532 0.00331
NM_003073.5(SMARCB1):c.-115C>T rs551328283 0.00242
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_001365951.3(KIF1B):c.*2895G>A rs184232081 0.00197
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_001365951.3(KIF1B):c.*2T>C rs148690591 0.00185
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_003073.5(SMARCB1):c.-184G>A rs563943196 0.00165
NM_004304.5(ALK):c.2676C>T (p.Ala892=) rs138668699 0.00164
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001365951.3(KIF1B):c.*3690C>A rs540616562 0.00140
NM_001365951.3(KIF1B):c.*4958G>A rs150497684 0.00133
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
NM_004304.5(ALK):c.2148C>T (p.Ser716=) rs55733526 0.00096
NM_004304.5(ALK):c.2613C>T (p.Asn871=) rs150557024 0.00093
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_004304.5(ALK):c.2430C>T (p.Ser810=) rs150292405 0.00086
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00077
NM_001365951.3(KIF1B):c.*1986C>G rs557129908 0.00054
NM_004304.5(ALK):c.3939-8A>G rs3738869 0.00054
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00052
NM_003073.5(SMARCB1):c.*293C>T rs754865420 0.00051
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_003073.5(SMARCB1):c.*33T>G rs11541580 0.00034
NM_004304.5(ALK):c.2526C>T (p.Ala842=) rs145271283 0.00029
NM_001365951.3(KIF1B):c.*3948G>A rs553404052 0.00026
NM_004304.5(ALK):c.4573A>G (p.Lys1525Glu) rs139437088 0.00024
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) rs370170353 0.00022
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) rs35073634 0.00021
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_004304.5(ALK):c.3336G>A (p.Pro1112=) rs146074150 0.00019
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_004304.5(ALK):c.2478C>T (p.Tyr826=) rs142126984 0.00016
NM_001365951.3(KIF1B):c.*3988G>A rs571451087 0.00014
NM_004304.5(ALK):c.*45G>A rs186421480 0.00013
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) rs149968229 0.00011
NM_003073.5(SMARCB1):c.-17C>T rs372777519 0.00006
NM_003924.4(PHOX2B):c.*550G>A rs577950819 0.00006
NM_004304.5(ALK):c.2011C>T (p.Pro671Ser) rs145780832 0.00006
NM_001365951.3(KIF1B):c.3423-15A>T rs200470260 0.00005
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_001365951.3(KIF1B):c.*2012C>T rs181454124 0.00003
NM_001365951.3(KIF1B):c.*2321A>G rs567547345 0.00003
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) rs187488637 0.00003
NM_004304.5(ALK):c.2127C>A (p.Asn709Lys) rs376175333 0.00003
NM_004304.5(ALK):c.4480G>A (p.Gly1494Arg) rs199940609 0.00002
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001365951.3(KIF1B):c.*2740C>A rs144047666
NM_001365951.3(KIF1B):c.*3857G>A rs536529721
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003924.4(PHOX2B):c.*1156C>A rs560413438
NM_003924.4(PHOX2B):c.*194C>T rs186778106
NM_003924.4(PHOX2B):c.*838A>G rs367652707
NM_004304.5(ALK):c.-539G>A rs200662898
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg) rs762358335
NM_004304.5(ALK):c.2775A>G (p.Gly925=) rs777406442
NM_004304.5(ALK):c.3600G>C (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.702T>A (p.Pro234=) rs2246745
NM_024426.6(WT1):c.*1049del rs568803808
NM_024426.6(WT1):c.*1239T>A rs534396876
NM_024426.6(WT1):c.*345G>A rs5030318
NM_024426.6(WT1):c.*864T>A rs5030323
NM_024426.6(WT1):c.*864T>G rs5030323
NM_024426.6(WT1):c.*978dup rs5030326
NM_177438.3(DICER1):c.*1448dup rs35463377
NM_177438.3(DICER1):c.*1716TG[1] rs35500699
NM_177438.3(DICER1):c.*2379dup rs140355178
NM_177438.3(DICER1):c.4206+7_4206+8dup rs1555368535

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