ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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