ClinVar Miner

List of variants reported as benign for leukopenia

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 541
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_032492.4(JAGN1):c.96T>C (p.Thr32=) rs279553 0.69356
NM_024598.4(USB1):c.99-36G>A rs3743560 0.60216
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) rs3917981 0.59625
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_138387.4(G6PC3):c.-129C>T rs228758 0.36841
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) rs3917980 0.28603
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_183235.3(RAB27A):c.*1662A>T rs1061823 0.27450
NM_183235.3(RAB27A):c.*936C>A rs1061870 0.27449
NM_183235.3(RAB27A):c.*949A>G rs1061873 0.27447
NM_183235.3(RAB27A):c.*1594A>G rs1061821 0.27431
NM_183235.3(RAB27A):c.*1647T>G rs1061822 0.27431
NM_183235.3(RAB27A):c.*1742A>G rs1061824 0.27430
NM_183235.3(RAB27A):c.*1427G>A rs1061875 0.27307
NM_183235.3(RAB27A):c.*1418T>A rs1061874 0.27298
NM_183235.3(RAB27A):c.*2007G>A rs6493769 0.27179
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_006118.4(HAX1):c.-58T>G rs11265425 0.21409
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17268
NM_001164277.2(SLC37A4):c.-195-64C>T rs56258965 0.15980
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001164277.2(SLC37A4):c.626+19C>T rs741811 0.11102
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_000081.4(LYST):c.2316C>T (p.Asp772=) rs16832868 0.05899
NM_000081.4(LYST):c.5847G>C (p.Gln1949His) rs6665568 0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=) rs34466404 0.05877
NM_000760.4(CSF3R):c.1528G>C (p.Asp510His) rs3917991 0.05672
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) rs34123220 0.04470
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419 0.03652
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_003467.3(CXCR4):c.414C>T (p.Ile138=) rs2228014 0.03364
NM_000081.4(LYST):c.5923-19G>T rs141197189 0.03063
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_001972.4(ELANE):c.390C>T (p.Asn130=) rs17223045 0.02903
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_000760.4(CSF3R):c.692T>C (p.Met231Thr) rs3917973 0.02621
NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974 0.02609
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817 0.02315
NM_005263.5(GFI1):c.648A>G (p.Ala216=) rs114464352 0.02301
NM_183235.3(RAB27A):c.*731G>T rs76097718 0.02129
NM_000760.4(CSF3R):c.958G>A (p.Asp320Asn) rs3918018 0.02119
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_000760.4(CSF3R):c.105C>A (p.Ile35=) rs3917954 0.01973
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=) rs34871377 0.01714
NM_183235.3(RAB27A):c.-142-5A>G rs61436564 0.01642
NM_003664.5(AP3B1):c.1364-18A>G rs112329411 0.01617
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_183235.3(RAB27A):c.*842G>A rs59982153 0.01444
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_000760.4(CSF3R):c.726C>T (p.Ala242=) rs3918017 0.01333
NM_005263.5(GFI1):c.1047C>T (p.Phe349=) rs80337126 0.01333
NM_003664.5(AP3B1):c.1095+17C>T rs58284777 0.01316
NM_138387.4(G6PC3):c.-152T>C rs149756661 0.01300
NM_001164277.2(SLC37A4):c.626+14C>T rs56394886 0.01293
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_183235.3(RAB27A):c.*2349A>G rs76970799 0.01147
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr) rs61746084 0.01094
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_001972.3(ELANE):c.-41C>A rs17216614 0.00970
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=) rs3917998 0.00872
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_152564.5(VPS13B):c.*1539A>G rs80237506 0.00812
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_007259.5(VPS45):c.290-14C>T rs148026724 0.00735
NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His) rs3917996 0.00717
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_183235.3(RAB27A):c.*387A>G rs73407873 0.00697
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_005263.5(GFI1):c.718G>C (p.Glu240Gln) rs6666973 0.00603
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe) rs143708376 0.00505
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019 0.00492
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868 0.00487
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_183235.3(RAB27A):c.*472A>C rs116723038 0.00475
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_183235.3(RAB27A):c.*1013T>C rs190724892 0.00420
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_032492.4(JAGN1):c.498C>T (p.Ser166=) rs61738795 0.00399
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_152564.5(VPS13B):c.7050+11A>G rs114546856 0.00372
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_003664.5(AP3B1):c.1838-19T>G rs140840619 0.00367
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala) rs35413645 0.00350
NM_005263.5(GFI1):c.168C>T (p.Ser56=) rs143913803 0.00346
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_152564.5(VPS13B):c.*655G>C rs78305289 0.00328
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile) rs143223086 0.00302
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423 0.00299
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_005263.5(GFI1):c.483T>C (p.Pro161=) rs374062963 0.00289
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_000081.4(LYST):c.5223T>C (p.Leu1741=) rs7530527 0.00277
NM_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_032492.4(JAGN1):c.1A>G (p.Met1Val) rs143438463 0.00267
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00246
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_000760.4(CSF3R):c.108C>T (p.Val36=) rs3918011 0.00193
NM_007259.5(VPS45):c.937-16G>A rs193195913 0.00191
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) rs145798898 0.00188
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_000760.4(CSF3R):c.1689C>A (p.Thr563=) rs113047241 0.00158
NM_000760.4(CSF3R):c.2334G>A (p.Ala778=) rs116118817 0.00154
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000760.4(CSF3R):c.1458G>A (p.Thr486=) rs138289951 0.00150
NM_032492.4(JAGN1):c.90-20C>T rs187981807 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) rs3917988 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_000760.4(CSF3R):c.1577-12C>G rs200420429 0.00125
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_003664.5(AP3B1):c.375+11G>A rs190638302 0.00114
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00113
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_152564.5(VPS13B):c.11495+19G>A rs370575091 0.00097
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_000081.4(LYST):c.6588A>G (p.Gly2196=) rs34423788 0.00093
NM_138387.4(G6PC3):c.189C>T (p.Ile63=) rs144594971 0.00092
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399 0.00091
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_000760.4(CSF3R):c.1723+8T>C rs143931193 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_007259.5(VPS45):c.126G>A (p.Ser42=) rs148944527 0.00076
NM_007259.5(VPS45):c.1626-14A>C rs201279066 0.00076
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_005263.5(GFI1):c.63A>G (p.Pro21=) rs142779589 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_032492.4(JAGN1):c.315C>A (p.Ile105=) rs185449117 0.00064
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=) rs150501885 0.00056
NM_000377.3(WAS):c.90C>T (p.His30=) rs148800063 0.00053
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00050
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr) rs78861150 0.00042
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_000081.4(LYST):c.9198C>T (p.Ser3066=) rs543359133 0.00039
NM_001972.4(ELANE):c.171C>T (p.Ala57=) rs201224981 0.00039
NM_000081.4(LYST):c.1655T>C (p.Val552Ala) rs199617821 0.00038
NM_001972.4(ELANE):c.654C>T (p.Phe218=) rs148492780 0.00037
NM_183235.3(RAB27A):c.399C>T (p.Asn133=) rs577958598 0.00036
NM_138387.4(G6PC3):c.1035T>A (p.Ser345=) rs201244794 0.00033
NM_000081.4(LYST):c.4863-4G>A rs201382097 0.00032
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_003467.3(CXCR4):c.945C>T (p.His315=) rs144110709 0.00030
NM_005263.5(GFI1):c.786+11C>A rs370294881 0.00030
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_001972.4(ELANE):c.16C>A (p.Arg6=) rs182347433 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_001972.4(ELANE):c.68-15C>A rs367875841 0.00026
NM_005263.5(GFI1):c.1245G>C (p.Arg415=) rs376151566 0.00026
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_000377.3(WAS):c.1455C>T (p.Asp485=) rs35359501 0.00021
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=) rs142850229 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=) rs201735478 0.00020
NM_005263.5(GFI1):c.588C>T (p.Gly196=) rs370716261 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_003664.5(AP3B1):c.402C>T (p.Ser134=) rs144761256 0.00018
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_000081.4(LYST):c.2700A>G (p.Leu900=) rs111463684 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_003467.3(CXCR4):c.511G>A (p.Asp171Asn) rs199535487 0.00016
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_032492.4(JAGN1):c.90-19C>T rs201733831 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245 0.00013
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_000081.4(LYST):c.2517T>C (p.Ile839=) rs78172154 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) rs781898144 0.00010
NM_000760.4(CSF3R):c.2484T>C (p.His828=) rs149680734 0.00010
NM_007259.5(VPS45):c.897A>G (p.Pro299=) rs184193549 0.00010
NM_000377.3(WAS):c.696G>A (p.Lys232=) rs368379103 0.00009
NM_001972.4(ELANE):c.366+9G>A rs200948740 0.00009
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_006118.4(HAX1):c.-52G>T rs578086387 0.00009
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_003664.5(AP3B1):c.2993-15C>A rs202232687 0.00008
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_000081.4(LYST):c.6078C>T (p.Tyr2026=) rs80338660 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000377.3(WAS):c.724A>T (p.Ser242Cys) rs782286374 0.00006
NM_001136018.4(EPHX1):c.1004C>T (p.Thr335Met) rs761149789 0.00006
NM_001972.4(ELANE):c.396C>T (p.Asn132=) rs144441259 0.00006
NM_005263.5(GFI1):c.1188C>T (p.Phe396=) rs374783582 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) rs782784813 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser) rs782308530 0.00005
NM_006118.4(HAX1):c.53+11G>A rs372098620 0.00005
NM_006118.4(HAX1):c.505-16A>G rs551835048 0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000377.3(WAS):c.133-18C>T rs782578064 0.00003
NM_000377.3(WAS):c.463+14A>C rs1338084492 0.00003
NM_000377.3(WAS):c.912G>A (p.Arg304=) rs782572275 0.00003
NM_001972.4(ELANE):c.21C>T (p.Leu7=) rs200666143 0.00003
NM_032492.4(JAGN1):c.336C>T (p.Ile112=) rs368122140 0.00003
NM_138387.4(G6PC3):c.59C>T (p.Ala20Val) rs777505318 0.00003
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_000377.3(WAS):c.16A>G (p.Met6Val) rs782730988 0.00002
NM_000377.3(WAS):c.249C>T (p.Tyr83=) rs368151220 0.00002
NM_000377.3(WAS):c.999G>A (p.Gly333=) rs369654974 0.00002
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val) rs201967384 0.00002
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=) rs574476271 0.00002
NM_005263.5(GFI1):c.1239G>A (p.Arg413=) rs769776057 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) rs141605347 0.00001
NM_000377.3(WAS):c.327C>G (p.Thr109=) rs1288545461 0.00001
NM_000760.4(CSF3R):c.1286-3C>T rs778391319 0.00001
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile) rs561701030 0.00001
NM_003467.3(CXCR4):c.171A>G (p.Gly57=) rs533290861 0.00001
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) rs779782582 0.00001
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_000081.4(LYST):c.*1275T>C
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*446T>C
NM_000081.4(LYST):c.*685G>T
NM_000081.4(LYST):c.*725G>A
NM_000081.4(LYST):c.-134G>C
NM_000081.4(LYST):c.10143+15dup
NM_000081.4(LYST):c.10374+20A>G
NM_000081.4(LYST):c.10565-20del
NM_000081.4(LYST):c.10940+20A>G
NM_000081.4(LYST):c.10941-8dup
NM_000081.4(LYST):c.11196-10del
NM_000081.4(LYST):c.11196-10dup
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.2363+17G>A
NM_000081.4(LYST):c.2364-16dup
NM_000081.4(LYST):c.3436C>T (p.Leu1146Phe)
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.4007-20dup
NM_000081.4(LYST):c.4688+19C>A
NM_000081.4(LYST):c.4863-11T>G
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5024-12del
NM_000081.4(LYST):c.5461-13_5461-12dup rs557545474
NM_000081.4(LYST):c.5461-3del rs557545474
NM_000081.4(LYST):c.5461-3dup rs557545474
NM_000081.4(LYST):c.5923-11del
NM_000081.4(LYST):c.5923-11dup
NM_000081.4(LYST):c.5923-4dup
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6122-13dup
NM_000081.4(LYST):c.6253+18G>A
NM_000081.4(LYST):c.6552G>A (p.Gln2184=)
NM_000081.4(LYST):c.7229+50CTTTT[7] rs71174459
NM_000081.4(LYST):c.7562G>C (p.Arg2521Thr)
NM_000081.4(LYST):c.7973-11del
NM_000081.4(LYST):c.8359-19del
NM_000081.4(LYST):c.8359-5dup
NM_000081.4(LYST):c.8948-12del
NM_000081.4(LYST):c.9162+11G>A
NM_000081.4(LYST):c.9316-19del
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.646+12del
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_000116.5(TAZ):c.-119=
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
NM_000377.3(WAS):c.133-19C>G
NM_000377.3(WAS):c.1453+17G>A
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11del
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.559+4C>T
NM_000377.3(WAS):c.560-4A>C
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.576G>A (p.Pro192=)
NM_000377.3(WAS):c.606C>A (p.Ile202=)
NM_000377.3(WAS):c.618C>T (p.Asp206=)
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del) rs782409127
NM_000377.3(WAS):c.6T>C (p.Ser2=)
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000377.3(WAS):c.931+20C>A rs782462041
NM_000377.3(WAS):c.945G>A (p.Pro315=)
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164277.2(SLC37A4):c.1125-7dup
NM_001164277.2(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001164277.2(SLC37A4):c.626+10del
NM_001164277.2(SLC37A4):c.626+16G>A rs74673344
NM_001972.4(ELANE):c.366+23del
NM_001972.4(ELANE):c.606C>A (p.Ser202=) rs17216649
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_003467.3(CXCR4):c.529G>A (p.Val177Ile)
NM_003467.3(CXCR4):c.946G>A (p.Ala316Thr) rs145335491
NM_003664.5(AP3B1):c.129-18del
NM_003664.5(AP3B1):c.129-18dup rs201281724
NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu) rs556638927
NM_003664.5(AP3B1):c.1650+12del rs563512609
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=) rs35976098
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.280-6del rs5868908
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_005263.5(GFI1):c.115+10_115+29del rs150506480
NM_005263.5(GFI1):c.924+10G>C rs770009520
NM_005263.5(GFI1):c.925-40CT[12] rs35896485
NM_005263.5(GFI1):c.925-40CT[13] rs35896485
NM_005263.5(GFI1):c.925-40CT[14] rs35896485
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[16] rs35896485
NM_005263.5(GFI1):c.925-40CT[17] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[20] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005263.5(GFI1):c.925-40CT[23] rs35896485
NM_005263.5(GFI1):c.925-40CT[24] rs35896485
NM_005263.5(GFI1):c.925-40CT[26] rs35896485
NM_005263.5(GFI1):c.925-40CT[27] rs35896485
NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCC rs1571213227
NM_007259.5(VPS45):c.1371+9A>T rs368568806
NM_007259.5(VPS45):c.1372-3del
NM_007259.5(VPS45):c.229-5dup rs781925027
NM_007259.5(VPS45):c.439-10dup
NM_007259.5(VPS45):c.439-2del rs782005099
NM_007259.5(VPS45):c.937-11del
NM_032492.4(JAGN1):c.*9T>C rs11554811
NM_138387.4(G6PC3):c.*151G>C rs1046770
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.11496-7dup
NM_152564.5(VPS13B):c.11745+15del rs1450725730
NM_152564.5(VPS13B):c.11746-10dup
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.148-11del
NM_152564.5(VPS13B):c.2013+9del rs2132597306
NM_152564.5(VPS13B):c.2208+9del rs2132624713
NM_152564.5(VPS13B):c.2209-4T>G rs201309214
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.2934+25dup rs770873113
NM_152564.5(VPS13B):c.3445+20dup
NM_152564.5(VPS13B):c.3667-14dup
NM_152564.5(VPS13B):c.413-12del
NM_152564.5(VPS13B):c.413-12dup
NM_152564.5(VPS13B):c.4633+22del rs756149542
NM_152564.5(VPS13B):c.4633+22dup rs756149542
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.5076+22del
NM_152564.5(VPS13B):c.5077-8del
NM_152564.5(VPS13B):c.5221-8dup rs2133931327
NM_152564.5(VPS13B):c.581-9del
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.6046+17del
NM_152564.5(VPS13B):c.6454+19del rs772522395
NM_152564.5(VPS13B):c.6455-4del rs398124337
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-5_6455-4dup
NM_152564.5(VPS13B):c.6658-13del
NM_152564.5(VPS13B):c.6658-13dup
NM_152564.5(VPS13B):c.6658-5dup
NM_152564.5(VPS13B):c.7051-13del
NM_152564.5(VPS13B):c.7429+14dup rs747441995
NM_152564.5(VPS13B):c.762+19dup rs770716174
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
NM_152564.5(VPS13B):c.7942-7dup
NM_152564.5(VPS13B):c.8446-5del rs760534492
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8792+24dup
NM_152564.5(VPS13B):c.8994+16del
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) rs757435621
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe) rs752763935
NM_152564.5(VPS13B):c.9742+13C>T rs112919682
NM_152564.5(VPS13B):c.9742+9dup
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068

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