ClinVar Miner

List of variants in gene G6PC3 reported as benign for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_138387.4(G6PC3):c.-129C>T rs228758 0.36841
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_138387.4(G6PC3):c.-152T>C rs149756661 0.01300
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_138387.4(G6PC3):c.1035T>A (p.Ser345=) rs201244794 0.00033
NM_138387.4(G6PC3):c.*151G>C rs1046770

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