ClinVar Miner

List of variants in gene G6PC3 reported as pathogenic 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: 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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