List of variants in gene combination G6PC3, LOC130060959 reported as likely benign for autosomal recessive severe congenital neutropenia

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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: 35

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HGVS	dbSNP	gnomAD frequency
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu)	rs34878178	0.00124
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)	rs375273894	0.00002
NM_138387.4(G6PC3):c.132C>T (p.Pro44=)	rs200427598	0.00001
NM_138387.4(G6PC3):c.147C>T (p.Ala49=)	rs898790675	0.00001
NM_138387.4(G6PC3):c.207C>T (p.Leu69=)	rs748995827	0.00001
NM_138387.4(G6PC3):c.218+20C>T	rs1347384901	0.00001
NM_138387.4(G6PC3):c.218+9G>C	rs371295401	0.00001
NM_138387.4(G6PC3):c.105C>A (p.Pro35=)	rs2509357645
NM_138387.4(G6PC3):c.108G>A (p.Lys36=)	rs539574186
NM_138387.4(G6PC3):c.118C>T (p.Leu40=)
NM_138387.4(G6PC3):c.129C>T (p.Phe43=)	rs2049969299
NM_138387.4(G6PC3):c.138C>T (p.Ala46=)	rs2509357806
NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)	rs118203970
NM_138387.4(G6PC3):c.153C>G (p.Arg51=)	rs761215881
NM_138387.4(G6PC3):c.165C>T (p.Ile55=)	rs2509357948
NM_138387.4(G6PC3):c.168G>T (p.Ala56=)	rs2509357962
NM_138387.4(G6PC3):c.171G>A (p.Val57=)	rs759787635
NM_138387.4(G6PC3):c.171G>T (p.Val57=)	rs759787635
NM_138387.4(G6PC3):c.192C>T (p.Thr64=)	rs780837377
NM_138387.4(G6PC3):c.195G>A (p.Glu65=)
NM_138387.4(G6PC3):c.207C>G (p.Leu69=)	rs748995827
NM_138387.4(G6PC3):c.213C>T (p.Phe71=)	rs1392954032
NM_138387.4(G6PC3):c.218+14G>C	rs777135332
NM_138387.4(G6PC3):c.218+16C>T	rs2509358251
NM_138387.4(G6PC3):c.218+17del	rs1217519945
NM_138387.4(G6PC3):c.218+18T>C	rs2509358260
NM_138387.4(G6PC3):c.218+8A>G	rs2509358216
NM_138387.4(G6PC3):c.57A>G (p.Leu19=)	rs1311675408
NM_138387.4(G6PC3):c.60C>G (p.Ala20=)	rs1555626202
NM_138387.4(G6PC3):c.81C>G (p.Leu27=)	rs1324312988
NM_138387.4(G6PC3):c.81C>T (p.Leu27=)	rs1324312988
NM_138387.4(G6PC3):c.87C>A (p.Ile29=)	rs1326588499
NM_138387.4(G6PC3):c.90C>T (p.Thr30=)	rs2144135114
NM_138387.4(G6PC3):c.99C>A (p.Gly33=)	rs2509357592
NM_138387.4(G6PC3):c.99C>T (p.Gly33=)	rs2509357592

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