List of variants in gene G6PC3 reported as pathogenic for autosomal recessive severe congenital neutropenia

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)	rs200478425	0.00006
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)	rs745582203	0.00003
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)	rs748931188	0.00003
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)	rs1056739194	0.00001
NM_138387.4(G6PC3):c.635del (p.Leu212fs)	rs769634275	0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)	rs118203968	0.00001
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)	rs148559256	0.00001
NC_000017.10:g.(?_42151508)_(42153411_?)del
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)	rs2509364261
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)	rs2050032479
NM_138387.4(G6PC3):c.346A>G (p.Met116Val)	rs267606834
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer)	rs1201721504
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)	rs767856364
NM_138387.4(G6PC3):c.464del (p.Leu155fs)	rs1295168770
NM_138387.4(G6PC3):c.482G>A (p.Arg161Gln)
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro)	rs118203969
NM_138387.4(G6PC3):c.575dup (p.Met192fs)	rs2509369429
NM_138387.4(G6PC3):c.677+1G>A	rs778208850
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del)	rs777475388
NM_138387.4(G6PC3):c.765del (p.Ala257fs)	rs2509371931
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg)	rs118203971
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)	rs34019455
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)	rs797044567

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