List of variants in gene combination G6PC3, LOC130060959 reported as pathogenic for leukopenia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)	rs775224457	0.00004
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)	rs1191239079	0.00003
NM_138387.4(G6PC3):c.210del (p.Phe71fs)	rs769441127	0.00001
NM_138387.4(G6PC3):c.218+1G>A	rs772298089	0.00001
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter)	rs118203970
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
NM_138387.4(G6PC3):c.199_218+1del	rs1597905369
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
NM_138387.4(G6PC3):c.218+2T>C
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)

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