List of variants reported as not provided for leukopenia by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 84

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	rs80356491	0.00026
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)	rs80356490	0.00008
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)	rs200478425	0.00006
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)	rs775224457	0.00004
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)	rs148559256	0.00002
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)	rs80338652	0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)	rs80356489	0.00001
NM_024598.4(USB1):c.243G>A (p.Trp81Ter)	rs137853973	0.00001
NM_024598.4(USB1):c.673C>T (p.Gln225Ter)	rs1459714680	0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs)	rs769441127	0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)	rs118203968	0.00001
NM_000081.2(LYST):c.7060_7066delCTATTAG	rs80338661
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)	rs80338669
NM_000081.4(LYST):c.10395del (p.Gly3466fs)	rs80338670
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.118dup (p.Ala40fs)	rs80338642
NM_000081.4(LYST):c.1467del (p.Glu489fs)	rs80338644
NM_000081.4(LYST):c.148C>T (p.Arg50Ter)	rs80338643
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)	rs80338645
NM_000081.4(LYST):c.1902dup (p.Ala635fs)	rs80338646
NM_000081.4(LYST):c.2413del (p.Glu805fs)	rs80338647
NM_000081.4(LYST):c.2454del (p.Ala819fs)	rs80338648
NM_000081.4(LYST):c.2623del (p.Tyr875fs)	rs80338649
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs)	rs80338650
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)	rs80338651
NM_000081.4(LYST):c.3434dup (p.His1145fs)
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter)	rs80338654
NM_000081.4(LYST):c.4274del (p.Leu1425fs)	rs80338656
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp)	rs80338655
NM_000081.4(LYST):c.4688G>A (p.Arg1563His)	rs80338657
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter)	rs80338658
NM_000081.4(LYST):c.5317del (p.Arg1773fs)	rs80338659
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp)	rs28942077
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter)	rs80338660
NM_000081.4(LYST):c.7555del (p.Tyr2519fs)	rs80338662
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys)	rs80338663
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter)	rs80338664
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)	rs80338666
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.9590del (p.Tyr3197fs)	rs80338667
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9893del (p.Phe3298fs)	rs80338668
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)	rs28931611
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)	rs137854450
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)	rs137854448
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr)	rs57246956
NM_001972.4(ELANE):c.640G>C (p.Gly214Arg)
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)	rs1555354200
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)	rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)	rs1555354750
NM_024598.4(USB1):c.176_177del (p.Gly59fs)	rs759761915
NM_024598.4(USB1):c.179del (p.Pro60fs)	rs786205051
NM_024598.4(USB1):c.232C>T (p.Arg78Ter)	rs374559185
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter)	rs199820065
NM_024598.4(USB1):c.265+2T>G	rs1555497680
NM_024598.4(USB1):c.266-1G>A	rs1555498092
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)	rs771096742
NM_024598.4(USB1):c.334dup (p.Arg112fs)	rs1555498117
NM_024598.4(USB1):c.415C>T (p.Gln139Ter)	rs1555498129
NM_024598.4(USB1):c.450-2A>G	rs1555498396
NM_024598.4(USB1):c.489_492del (p.Asn163fs)	rs777667891
NM_024598.4(USB1):c.499del (p.Thr167fs)	rs1555498399
NM_024598.4(USB1):c.502A>G (p.Arg168Gly)	rs137853971
NM_024598.4(USB1):c.504-2A>C	rs137853970
NM_024598.4(USB1):c.518T>G (p.Leu173Arg)	rs1555498563
NM_024598.4(USB1):c.531del (p.His179fs)	rs1555498565
NM_024598.4(USB1):c.541C>T (p.Gln181Ter)	rs1555498573
NM_024598.4(USB1):c.609+1G>A	rs1555498581
NM_024598.4(USB1):c.623A>G (p.His208Arg)	rs1249059283
NM_024598.4(USB1):c.683_693+1del	rs137853972
NM_024598.4(USB1):c.693+1G>T	rs1292827495
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)	rs797044567
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)	rs180177327
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)	rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)	rs180177329

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.