ClinVar Miner

List of variants in gene GFI1 reported as likely benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
Download table as spreadsheet
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=)

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.