List of variants reported as not provided for agranulocytosis

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)	rs141046414	0.00054
NM_003664.5(AP3B1):c.3131+5G>T	rs191616060	0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)	rs181625846	0.00053
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	rs80356491	0.00026
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala)	rs151337641	0.00019
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)	rs80356490	0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met)	rs140785361	0.00008
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)	rs200478425	0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile)	rs200519753	0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)	rs371500701	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
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
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.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.1902dup (p.Ala635fs)	rs80338646
NM_000081.4(LYST):c.2317G>A (p.Val773Met)
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.6833A>G (p.Tyr2278Cys)
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_000377.3(WAS):c.1090C>T (p.Arg364Ter)	rs2062429013
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_005263.5(GFI1):c.79C>T (p.Leu27Phe)	rs1658376438
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.3397C>T (p.Pro1133Ser)	rs781781537
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)	rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)	rs180177329

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