ClinVar Miner

List of variants in gene G6PC3 reported as pathogenic for Severe congenital neutropenia 4, autosomal recessive

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Total variants: 11
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HGVS dbSNP
G6PC3, 1-BP DUP, 935T
NM_001319945.2(G6PC3):c.210del (p.Phe71fs) rs769441127
NM_138387.3(G6PC3):c.130C>T (p.Pro44Ser) rs775224457
NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter) rs118203970
NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro) rs118203969
NM_138387.3(G6PC3):c.565C>T (p.Arg189Ter)
NM_138387.3(G6PC3):c.758G>A (p.Arg253His) rs118203968
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) rs200478425
NM_138387.3(G6PC3):c.784G>C (p.Gly262Arg) rs118203971
NM_138387.3(G6PC3):c.829C>T (p.Gln277Ter) rs148559256
NM_138387.3(G6PC3):c.935dup (p.Asn313fs) rs797044567

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