ClinVar Miner

List of variants in gene GFI1 reported as benign for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_005263.5(GFI1):c.648A>G (p.Ala216=) rs114464352 0.02301
NM_005263.5(GFI1):c.1047C>T (p.Phe349=) rs80337126 0.01333
NM_005263.5(GFI1):c.718G>C (p.Glu240Gln) rs6666973 0.00603
NM_005263.5(GFI1):c.168C>T (p.Ser56=) rs143913803 0.00346
NM_005263.5(GFI1):c.483T>C (p.Pro161=) rs374062963 0.00289
NM_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_005263.5(GFI1):c.63A>G (p.Pro21=) rs142779589 0.00068
NM_005263.5(GFI1):c.786+11C>A rs370294881 0.00030
NM_005263.5(GFI1):c.1245G>C (p.Arg415=) rs376151566 0.00026
NM_005263.5(GFI1):c.588C>T (p.Gly196=) rs370716261 0.00019
NM_005263.5(GFI1):c.1239G>A (p.Arg413=) rs769776057 0.00002
NM_005263.5(GFI1):c.115+10_115+29del rs150506480
NM_005263.5(GFI1):c.924+10G>C rs770009520
NM_005263.5(GFI1):c.925-40CT[12] rs35896485
NM_005263.5(GFI1):c.925-40CT[13] rs35896485
NM_005263.5(GFI1):c.925-40CT[14] 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[17] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[20] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005263.5(GFI1):c.925-40CT[23] rs35896485
NM_005263.5(GFI1):c.925-40CT[24] rs35896485
NM_005263.5(GFI1):c.925-40CT[26] rs35896485
NM_005263.5(GFI1):c.925-40CT[27] rs35896485
NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCC rs1571213227

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