ClinVar Miner

List of variants reported as uncertain significance for leukopenia by Counsyl

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_001164277.2(SLC37A4):c.785+6A>T rs369358436 0.00072
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771 0.00010
NM_001164277.2(SLC37A4):c.871+6C>T rs377101167 0.00010
NM_001164277.2(SLC37A4):c.*7T>G rs369243698 0.00009
NM_001164277.2(SLC37A4):c.-504G>A rs1045560610 0.00009
NM_001164277.2(SLC37A4):c.1125-7_1125-6del rs782342989 0.00006
NM_001164277.2(SLC37A4):c.986-11G>A rs1487063543 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.5077-13G>A rs376055963 0.00004
NM_001164277.2(SLC37A4):c.-535G>C rs138523194 0.00003
NM_152564.5(VPS13B):c.11745+5G>A rs398124328 0.00003
NM_152564.5(VPS13B):c.2935-4C>T rs207469601 0.00003
NM_001164277.2(SLC37A4):c.-530G>A rs1417861590 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.149-7C>T rs1316874319 0.00002
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile) rs953252068 0.00002
NM_001164277.2(SLC37A4):c.382-10T>C rs914753772 0.00002
NM_001164277.2(SLC37A4):c.382-4A>C rs923058912 0.00002
NM_001164277.2(SLC37A4):c.985+240_985+241insTA rs782397393 0.00002
NM_001164277.2(SLC37A4):c.*1A>G rs782422570 0.00001
NM_001164277.2(SLC37A4):c.-499C>T rs1236559416 0.00001
NM_001164277.2(SLC37A4):c.-522G>A rs1375919926 0.00001
NM_001164277.2(SLC37A4):c.-527C>T rs1290401578 0.00001
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val) rs1474838395 0.00001
NM_001164277.2(SLC37A4):c.1125-6T>C rs782323567 0.00001
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala) rs1157093654 0.00001
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.149-6C>G rs1407509189 0.00001
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621 0.00001
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885 0.00001
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His) rs782578166 0.00001
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101 0.00001
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly) rs777627677 0.00001
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile) rs764654621 0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904 0.00001
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro) rs1555191906 0.00001
NM_001164277.2(SLC37A4):c.872-11T>C rs1265857875 0.00001
NM_001164277.2(SLC37A4):c.872-6C>G rs781985446 0.00001
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp) rs763008231 0.00001
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738 0.00001
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val) rs957014690 0.00001
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu) rs955402383 0.00001
NM_001164277.2(SLC37A4):c.985+259G>C rs1384684015 0.00001
NM_001164277.2(SLC37A4):c.985+271A>C rs1313690608 0.00001
NM_001164277.2(SLC37A4):c.986-12T>C rs1180556897 0.00001
NM_001164277.2(SLC37A4):c.986-15C>T rs782640506 0.00001
NM_001164277.2(SLC37A4):c.986-8C>T rs782425309 0.00001
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met) rs267601674 0.00001
NM_152564.5(VPS13B):c.1302+2dup rs766708621 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_001164277.2(SLC37A4):c.*11G>A rs978301169
NM_001164277.2(SLC37A4):c.*12G>A rs1221264103
NM_001164277.2(SLC37A4):c.*1AG[2] rs782195068
NM_001164277.2(SLC37A4):c.*5A>G rs373050741
NM_001164277.2(SLC37A4):c.*5A>T rs373050741
NM_001164277.2(SLC37A4):c.-10C>G rs782655025
NM_001164277.2(SLC37A4):c.-13G>T rs1555191914
NM_001164277.2(SLC37A4):c.-15C>T rs1210959942
NM_001164277.2(SLC37A4):c.-16C>A rs1555191915
NM_001164277.2(SLC37A4):c.-16C>G rs1555191915
NM_001164277.2(SLC37A4):c.-2C>T rs1318999121
NM_001164277.2(SLC37A4):c.-498G>T rs1555192177
NM_001164277.2(SLC37A4):c.-504G>C rs1045560610
NM_001164277.2(SLC37A4):c.-506A>G rs1555192180
NM_001164277.2(SLC37A4):c.-528C>T rs1555192184
NM_001164277.2(SLC37A4):c.-535G>A rs138523194
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys) rs1555190525
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met) rs1555190517
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr) rs1555190513
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val) rs782533083
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro) rs1210588522
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr) rs1342845276
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser) rs1555190504
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu) rs1555190480
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser) rs782182577
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.2(SLC37A4):c.1124+4A>G rs1555190440
NM_001164277.2(SLC37A4):c.1125-14T>C rs1555190405
NM_001164277.2(SLC37A4):c.1125-6T>G rs782323567
NM_001164277.2(SLC37A4):c.1125-8C>T rs1555190404
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu) rs1555190400
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu) rs1555190399
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr) rs782603818
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg) rs1440498520
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu) rs1555190395
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met) rs1555190381
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln) rs1555190378
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser) rs781818280
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro) rs1555190359
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser) rs1555190347
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu) rs781849575
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu) rs1438944888
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala) rs781846380
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val) rs1245752008
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly) rs1555191832
NM_001164277.2(SLC37A4):c.149-11G>A rs1555191644
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly) rs1555191637
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val) rs782083266
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His) rs1555191626
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys) rs1555191604
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr) rs1555191603
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu) rs1191615872
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val) rs193302886
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile) rs1555191582
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr) rs782563826
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu) rs1555191568
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu) rs1555191550
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr) rs1555191517
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp) rs1555191510
NM_001164277.2(SLC37A4):c.381+4A>G rs1555191499
NM_001164277.2(SLC37A4):c.382-15C>T rs1555191417
NM_001164277.2(SLC37A4):c.382-3C>G rs1555191407
NM_001164277.2(SLC37A4):c.382-6C>T rs756248657
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg) rs1555191405
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly) rs1555191405
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys) rs1555191401
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala) rs1465764979
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu) rs1555191386
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln) rs1555191378
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly) rs1555191372
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu) rs1555191883
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro) rs1555191353
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr) rs1555191879
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr) rs1555191907
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr) rs1397362093
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe) rs1555191258
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp) rs1555191237
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe) rs1041686986
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys) rs567419206
NM_001164277.2(SLC37A4):c.626+4A>C rs770644132
NM_001164277.2(SLC37A4):c.626+6C>T rs762685017
NM_001164277.2(SLC37A4):c.627-12T>C rs1555191134
NM_001164277.2(SLC37A4):c.627-3C>T rs1349289897
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del) rs1555191121
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser) rs1555191101
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met) rs782167890
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu) rs141105181
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile) rs1555191080
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala) rs1555191079
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser) rs1555191077
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu) rs782584884
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys) rs1555191060
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg) rs1555191054
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val) rs1029013255
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile) rs1226267943
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val) rs1555190944
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val) rs1555190938
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn) rs1555190931
NM_001164277.2(SLC37A4):c.871+5G>A rs1250046397
NM_001164277.2(SLC37A4):c.871+6C>G rs377101167
NM_001164277.2(SLC37A4):c.872-10G>A rs1555190776
NM_001164277.2(SLC37A4):c.872-12C>T rs200279011
NM_001164277.2(SLC37A4):c.872-15_872-9dup rs782321213
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg) rs1320796917
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met) rs1555190769
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser) rs1555190764
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His) rs763008231
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn) rs987244110
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser) rs1555190753
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr) rs1555190739
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr) rs1335122136
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr) rs1555191854
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met) rs1555190726
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile) rs1168556886
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu) rs1168556886
NM_001164277.2(SLC37A4):c.985+219T>C rs1555190648
NM_001164277.2(SLC37A4):c.985+241C>G rs1555190639
NM_001164277.2(SLC37A4):c.985+244T>G rs1555190637
NM_001164277.2(SLC37A4):c.985+259G>A rs1384684015
NM_001164277.2(SLC37A4):c.985+3A>G rs782121210
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile) rs1555190563
NM_001164277.2(SLC37A4):c.986-14T>G rs863224211
NM_001164277.2(SLC37A4):c.986-4del rs1555190566
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met) rs1555190553
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu) rs782443770
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu) rs1555191848
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs) rs1554824897
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His) rs768432188
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs) rs1554824976
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg) rs1554825009
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu) rs1554825023
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del) rs1554581280
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del) rs1554581420
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) rs886062549
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del) rs781133717
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup) rs1554588147
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del) rs1554590369
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup) rs1236948038
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del) rs1554590420
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs) rs1554590501
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs) rs1554590506
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup) rs1554590515
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs) rs1554590537
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup) rs1554590552
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup) rs1554590631
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs) rs1554590620
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs) rs1554590636
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1206+40T>C rs1554625938
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del) rs1554645561
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys) rs1554706171
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr) rs1554824649
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala) rs1554824675
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs) rs1554824678
NM_152564.5(VPS13B):c.4224+1G>C rs376982982
NM_152564.5(VPS13B):c.4224+556A>G rs1554824890
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del) rs1554826499
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) rs886062541
NM_152564.5(VPS13B):c.4950-2dup rs1554852944
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del) rs770497996
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del) rs1554560677
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del) rs1554566693
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT rs756641209
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734

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