ClinVar Miner

List of variants studied for Severe congenital neutropenia 4, autosomal recessive by OMIM

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Total variants: 6

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HGVS	dbSNP
G6PC3, 1-BP DUP, 935T
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.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

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