ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_005573.4(LMNB1):c.*284T>G rs550205958 0.00297
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_005573.4(LMNB1):c.*54A>T rs370551700 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_001002295.2(GATA3):c.-495G>C rs556347150 0.00030
NM_001002295.2(GATA3):c.*575A>C rs552915242 0.00029
NM_022039.4(FBXW4):c.192G>A (p.Thr64=) rs886046647 0.00024
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr) rs200476624 0.00021
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_000057.4(BLM):c.-65C>T rs577293550 0.00019
NM_001002295.2(GATA3):c.*383T>G rs116910852 0.00017
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00016
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_001002295.2(GATA3):c.*952G>A rs773450577 0.00014
NM_022039.4(FBXW4):c.*600G>A rs1022774144 0.00014
NM_000057.4(BLM):c.-70G>T rs552669203 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_001002295.2(GATA3):c.990G>A (p.Arg330=) rs374947324 0.00013
NM_005573.4(LMNB1):c.*270T>C rs1021872186 0.00013
NM_000057.4(BLM):c.*142T>C rs1040068612 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_005573.4(LMNB1):c.*301T>C rs960666703 0.00011
NM_022039.4(FBXW4):c.726-12G>T rs755969920 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_001002295.2(GATA3):c.*656G>A rs929190496 0.00008
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_024426.6(WT1):c.*574del rs5030319 0.00007
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892 0.00006
NM_001002295.2(GATA3):c.-40G>A rs201178566 0.00006
NM_001042424.3(NSD2):c.*1922dup rs886059331 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys) rs770518721 0.00006
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) rs994236399 0.00005
NM_022455.5(NSD1):c.*1014dup rs886060448 0.00005
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557 0.00004
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003 0.00004
NM_001002295.2(GATA3):c.*857A>T rs886047304 0.00004
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) rs746926553 0.00004
NM_022039.4(FBXW4):c.*606A>C rs886046641 0.00004
NM_000057.4(BLM):c.-29C>T rs886051549 0.00003
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537 0.00003
NM_001002295.2(GATA3):c.*105A>G rs886047300 0.00003
NM_001002295.2(GATA3):c.*746C>T rs545858251 0.00003
NM_001002295.2(GATA3):c.-369-11C>T rs886047297 0.00003
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp) rs140286143 0.00003
NM_022455.5(NSD1):c.*4596del rs886060459 0.00003
NM_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_001002295.2(GATA3):c.*1029C>T rs530772797 0.00002
NM_001002295.2(GATA3):c.*1072C>A rs886047306 0.00002
NM_001002295.2(GATA3):c.-561G>T rs1486145282 0.00002
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) rs749900784 0.00002
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr) rs778421571 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_005573.4(LMNB1):c.1161-6A>G rs765920630 0.00002
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) rs374998378 0.00002
NM_000057.4(BLM):c.-59T>A rs1438250598 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507 0.00001
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.98+6T>G rs886051550 0.00001
NM_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_001002295.2(GATA3):c.*267G>A rs886047301 0.00001
NM_001002295.2(GATA3):c.*320T>C rs1003189936 0.00001
NM_001002295.2(GATA3):c.-148A>G rs886047299 0.00001
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=) rs150229374 0.00001
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) rs752977342 0.00001
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) rs541782074 0.00001
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr) rs752779081 0.00001
NM_001002295.2(GATA3):c.489G>A (p.Pro163=) rs766774125 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser) rs1234645097 0.00001
NM_005068.3(SIM1):c.*1484T>C rs886060891 0.00001
NM_005068.3(SIM1):c.743+10C>G rs886060897 0.00001
NM_005573.4(LMNB1):c.*640G>A rs1294635743 0.00001
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) rs575662572 0.00001
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg) rs151048089 0.00001
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln) rs886046642 0.00001
NM_022455.5(NSD1):c.1063+10dup rs762416925 0.00001
NM_000057.4(BLM):c.-33G>C rs938444227
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.436G>C (p.Asp146His) rs1895616204
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn) rs189205303
NM_000612.6(IGF2):c.199G>A (p.Val67Ile) rs1564894953
NM_001002295.2(GATA3):c.*264_*265dup rs3839918
NM_001002295.2(GATA3):c.*265dup rs3839918
NM_001002295.2(GATA3):c.*356G>A rs886047302
NM_001002295.2(GATA3):c.*588C>A rs1832985629
NM_001002295.2(GATA3):c.*592G>A rs1832985780
NM_001002295.2(GATA3):c.*598G>A rs187150410
NM_001002295.2(GATA3):c.*647A>G rs563624409
NM_001002295.2(GATA3):c.*714G>A rs886047303
NM_001002295.2(GATA3):c.*747G>A rs899862408
NM_001002295.2(GATA3):c.*863T>A rs1832990708
NM_001002295.2(GATA3):c.*895T>G rs886047305
NM_001002295.2(GATA3):c.-287G>A rs886047298
NM_001002295.2(GATA3):c.-370+28dup rs397846644
NM_001002295.2(GATA3):c.-413C>T rs540527013
NM_001002295.2(GATA3):c.-503_-502dup rs60098638
NM_001002295.2(GATA3):c.-80C>T rs569360560
NM_001002295.2(GATA3):c.327C>T (p.Ala109=) rs1832681004
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) rs1832688600
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) rs148835259
NM_001002295.2(GATA3):c.708C>A (p.Pro236=) rs143582578
NM_001042424.3(NSD2):c.*1370dup rs886059325
NM_001042424.3(NSD2):c.*2012dup rs766138833
NM_001042424.3(NSD2):c.-29-6901dup rs886059308
NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu) rs2073219406
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter) rs2083274586
NM_005068.3(SIM1):c.*1447TG[4] rs886060892
NM_005068.3(SIM1):c.-200del rs146022425
NM_005573.4(LMNB1):c.*189T>G rs1752249694
NM_005573.4(LMNB1):c.*629G>A rs761208282
NM_005573.4(LMNB1):c.*629G>C rs761208282
NM_005573.4(LMNB1):c.*631G>A rs569902214
NM_005573.4(LMNB1):c.*634A>G rs1382551348
NM_005573.4(LMNB1):c.-159C>G rs886059857
NM_005573.4(LMNB1):c.-76G>T rs1371898314
NM_005573.4(LMNB1):c.1387-3T>C rs886059859
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) rs1751792373
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp) rs2140719597
NM_022039.4(FBXW4):c.*381C>G rs2063775084
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=) rs2064322238
NM_022039.4(FBXW4):c.1302-9C>T rs771930157
NM_022039.4(FBXW4):c.1473C>T (p.His491=) rs147424741
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser) rs2064658916
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly) rs886046645
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter) rs886046644
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys) rs886046643
NM_022039.4(FBXW4):c.507G>A (p.Ala169=) rs1404824736
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser) rs759941552
NM_022039.4(FBXW4):c.923G>A (p.Arg308His) rs771654851
NM_022455.5(NSD1):c.*216CCAA[1] rs886060444
NM_022455.5(NSD1):c.*4609_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611dup rs60995782
NM_022455.5(NSD1):c.*4611dup rs60995782
NM_022455.5(NSD1):c.*4612del rs886060465
NM_022455.5(NSD1):c.*565del rs886060446
NM_022455.5(NSD1):c.*839dup rs886060447
NM_024426.6(WT1):c.*1021GT[14] rs58549495
NM_024426.6(WT1):c.*1021GT[15] rs58549495
NM_024426.6(WT1):c.*1021GT[18] rs58549495
NM_024426.6(WT1):c.*1021GT[19] rs58549495
NM_024426.6(WT1):c.*1021GT[20] rs58549495
NM_024426.6(WT1):c.*1058G>T rs886048211
NM_024426.6(WT1):c.*269G>T rs886048225
NM_024426.6(WT1):c.*354G>T rs886048224
NM_024426.6(WT1):c.*366C>A rs886048223
NM_024426.6(WT1):c.*393G>T rs886048222
NM_024426.6(WT1):c.*685G>T rs886048218
NM_024426.6(WT1):c.*707C>A rs886048217
NM_024426.6(WT1):c.*741G>T rs886048216
NM_024426.6(WT1):c.*768A>C rs886048215
NM_024426.6(WT1):c.*841C>A rs886048213
NM_024426.6(WT1):c.-31G>T rs886048234
NM_024426.6(WT1):c.-82A>C rs886048236
NM_024426.6(WT1):c.-86T>C rs886048237
NM_024426.6(WT1):c.-90T>C rs886048238
NM_024426.6(WT1):c.-94G>C rs886048239
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) rs886048233
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) rs886048231
NM_024426.6(WT1):c.285C>T (p.Gly95=) rs886048230

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