ClinVar Miner

List of variants in gene GFI1 reported as likely benign for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_005263.5(GFI1):c.319C>G (p.Pro107Ala) rs149914857 0.00269
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_005263.5(GFI1):c.1032C>T (p.Tyr344=) rs139144506 0.00056
NM_005263.5(GFI1):c.572C>T (p.Ala191Val) rs758542203 0.00028
NM_005263.5(GFI1):c.200G>A (p.Arg67Lys) rs200577201 0.00023
NM_005263.5(GFI1):c.83G>A (p.Arg28His) rs372866021 0.00017
NM_005263.5(GFI1):c.1242C>T (p.His414=) rs142561847 0.00016
NM_005263.5(GFI1):c.759C>T (p.Gly253=) rs369149637 0.00014
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_005263.5(GFI1):c.924+17C>G rs781185536 0.00005
NM_005263.5(GFI1):c.252G>C (p.Ser84=) rs140302204 0.00004
NM_005263.5(GFI1):c.924+13C>T rs745901225 0.00004
NM_005263.5(GFI1):c.804C>T (p.His268=) rs376949976 0.00003
NM_005263.5(GFI1):c.498G>A (p.Ala166=) rs772031788 0.00002
NM_005263.5(GFI1):c.69A>G (p.Pro23=) rs369812626 0.00002
NM_005263.5(GFI1):c.772A>G (p.Ile258Val) rs755193129 0.00002
NM_005263.5(GFI1):c.1251G>A (p.Thr417=) rs757855720 0.00001
NM_005263.5(GFI1):c.303G>A (p.Ser101=) rs766935424 0.00001
NM_005263.5(GFI1):c.336C>A (p.Ala112=) rs1255866723 0.00001
NM_005263.5(GFI1):c.390T>C (p.Ser130=) rs982399913 0.00001
NM_005263.5(GFI1):c.39C>T (p.His13=) rs371677124 0.00001
NM_005263.5(GFI1):c.419G>A (p.Arg140Gln) rs551351361 0.00001
NM_005263.5(GFI1):c.516G>T (p.Arg172=) rs1391305912 0.00001
NM_005263.5(GFI1):c.528C>T (p.Gly176=) rs1184904073 0.00001
NM_005263.5(GFI1):c.576C>G (p.Thr192=) rs181638652 0.00001
NM_005263.5(GFI1):c.594G>A (p.Gly198=) rs1470754174 0.00001
NM_005263.5(GFI1):c.666C>T (p.Tyr222=) rs771550817 0.00001
NM_005263.5(GFI1):c.924+11G>A rs1471107230 0.00001
NM_005263.5(GFI1):c.924+14G>A rs1007325566 0.00001
NM_005263.5(GFI1):c.948C>A (p.Ile316=) rs372553729 0.00001
NM_005263.5(GFI1):c.-100+686C>A rs1018517928
NM_005263.5(GFI1):c.1071A>G (p.Lys357=)
NM_005263.5(GFI1):c.108C>T (p.Ser36=)
NM_005263.5(GFI1):c.115+16G>C
NM_005263.5(GFI1):c.115+17G>A
NM_005263.5(GFI1):c.115+8G>A rs774875013
NM_005263.5(GFI1):c.116-14C>T
NM_005263.5(GFI1):c.116-15G>C
NM_005263.5(GFI1):c.123T>G (p.Thr41=)
NM_005263.5(GFI1):c.1245G>T (p.Arg415=) rs376151566
NM_005263.5(GFI1):c.1257T>C (p.His419=)
NM_005263.5(GFI1):c.141G>A (p.Ala47=)
NM_005263.5(GFI1):c.171C>G (p.Pro57=) rs200099018
NM_005263.5(GFI1):c.210A>G (p.Ala70=)
NM_005263.5(GFI1):c.276C>T (p.Pro92=) rs778939406
NM_005263.5(GFI1):c.298+12C>G
NM_005263.5(GFI1):c.298+19C>T
NM_005263.5(GFI1):c.299-12G>C rs962841876
NM_005263.5(GFI1):c.299-19T>C rs867973488
NM_005263.5(GFI1):c.30G>A (p.Lys10=)
NM_005263.5(GFI1):c.321A>G (p.Pro107=)
NM_005263.5(GFI1):c.336C>T (p.Ala112=)
NM_005263.5(GFI1):c.351G>A (p.Leu117=) rs2101573590
NM_005263.5(GFI1):c.426T>C (p.Cys142=)
NM_005263.5(GFI1):c.451C>T (p.Leu151=) rs2101573018
NM_005263.5(GFI1):c.459C>T (p.Leu153=)
NM_005263.5(GFI1):c.477G>A (p.Pro159=) rs1249429892
NM_005263.5(GFI1):c.492G>A (p.Pro164=)
NM_005263.5(GFI1):c.492G>T (p.Pro164=)
NM_005263.5(GFI1):c.514C>A (p.Arg172=) rs1571216920
NM_005263.5(GFI1):c.522C>G (p.Ala174=)
NM_005263.5(GFI1):c.531G>A (p.Ala177=)
NM_005263.5(GFI1):c.538G>A (p.Gly180Arg) rs529448705
NM_005263.5(GFI1):c.558C>T (p.Ser186=) rs2101572104
NM_005263.5(GFI1):c.57C>A (p.Arg19=) rs2101582509
NM_005263.5(GFI1):c.57C>T (p.Arg19=)
NM_005263.5(GFI1):c.669C>G (p.Pro223=) rs747582787
NM_005263.5(GFI1):c.675T>C (p.Arg225=)
NM_005263.5(GFI1):c.702C>T (p.Gly234=)
NM_005263.5(GFI1):c.717G>C (p.Val239=) rs2101570871
NM_005263.5(GFI1):c.723G>C (p.Ser241=)
NM_005263.5(GFI1):c.729G>A (p.Leu243=) rs1658186951
NM_005263.5(GFI1):c.730C>T (p.Leu244=)
NM_005263.5(GFI1):c.786+12G>A
NM_005263.5(GFI1):c.787-5C>T rs1156763305
NM_005263.5(GFI1):c.822G>A (p.Val274=)
NM_005263.5(GFI1):c.924+13C>G
NM_005263.5(GFI1):c.924+8del
NM_005263.5(GFI1):c.924+9G>A
NM_005263.5(GFI1):c.924+9G>T rs1180814416
NM_005263.5(GFI1):c.925-40CT[11] 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[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[25] rs35896485
NM_005263.5(GFI1):c.925-40CT[28] rs35896485
NM_005263.5(GFI1):c.925-40CT[29]
NM_005263.5(GFI1):c.925-40CT[30] rs35896485
NM_005263.5(GFI1):c.925-40CT[31] rs35896485
NM_005263.5(GFI1):c.925-40CT[32] rs35896485
NM_005263.5(GFI1):c.925-40CT[34] rs35896485
NM_005263.5(GFI1):c.925-40CT[8] rs35896485
NM_005263.5(GFI1):c.925-7_925-6insTCTCTCTCTA rs1553162639
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT rs766365921
NM_005263.5(GFI1):c.925-9_925-8insTCTCTCTA rs1553162640
NM_005263.5(GFI1):c.942T>C (p.Cys314=)
NM_005263.5(GFI1):c.979C>T (p.Leu327=)
NM_005263.5(GFI1):c.99G>C (p.Pro33=)

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