ClinVar Miner

List of variants in gene GFI1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005263.5(GFI1):c.200G>A (p.Arg67Lys) rs200577201 0.00023
NM_005263.5(GFI1):c.431C>G (p.Ala144Gly) rs533176227 0.00009
NM_005263.5(GFI1):c.314T>A (p.Met105Lys) rs201301010 0.00006
NM_005263.5(GFI1):c.662T>A (p.Leu221Gln) rs370626442 0.00004
NM_005263.5(GFI1):c.383C>A (p.Ala128Glu) rs371451553 0.00001
NM_005263.5(GFI1):c.596T>C (p.Leu199Pro) rs1291583681 0.00001
NM_005263.5(GFI1):c.864G>A (p.Met288Ile) rs1433049434 0.00001
NM_005263.5(GFI1):c.281C>T (p.Ser94Leu) rs992126786
NM_005263.5(GFI1):c.299-12G>C rs962841876
NM_005263.5(GFI1):c.559G>T (p.Ala187Ser)
NM_005263.5(GFI1):c.74A>T (p.Tyr25Phe) rs375422035
NM_005263.5(GFI1):c.925-40CT[26] rs35896485

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