ClinVar Miner

List of variants reported as uncertain significance for leukopenia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_000760.4(CSF3R):c.2041-30C>T rs3918021 0.00270
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) rs146685901 0.00223
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.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
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_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln) rs201349007 0.00015
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) rs183614500 0.00013
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_001972.4(ELANE):c.104G>A (p.Arg35Gln) rs375350474 0.00009
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg) rs531619892 0.00009
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_152564.5(VPS13B):c.1652-9T>A rs375615155 0.00005
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu) rs756651685 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_005263.5(GFI1):c.391G>A (p.Asp131Asn) rs750742235 0.00004
NM_006118.4(HAX1):c.221G>A (p.Arg74His) rs151225652 0.00004
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_014017.4(LAMTOR2):c.231+7A>G rs750943723 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_152564.5(VPS13B):c.10169C>T (p.Thr3390Ile) rs767783667 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_005263.5(GFI1):c.541G>A (p.Ala181Thr) rs1345753394 0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) rs782797599 0.00001
NM_000081.4(LYST):c.11167G>T (p.Ala3723Ser)
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
NM_000081.4(LYST):c.2768C>T (p.Ser923Leu)
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu)
NM_000081.4(LYST):c.7647G>A (p.Gln2549=)
NM_000377.3(WAS):c.963AGG[1] (p.Gly323del)
NM_000760.4(CSF3R):c.1072-10T>C rs1557592278
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_138387.4(G6PC3):c.677+7C>T rs1045392209
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
NM_152564.5(VPS13B):c.10873G>T (p.Val3625Leu) rs777314496
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11957T>A (p.Met3986Lys)
NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser) rs1193369148
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183

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