ClinVar Miner

List of variants reported as uncertain significance for Severe congenital neutropenia 4, autosomal recessive by Invitae

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Total variants: 20
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HGVS dbSNP
NM_138387.3(G6PC3):c.1006A>C (p.Ser336Arg)
NM_138387.3(G6PC3):c.10A>G (p.Thr4Ala)
NM_138387.3(G6PC3):c.31A>G (p.Ile11Val)
NM_138387.3(G6PC3):c.376A>G (p.Met126Val)
NM_138387.3(G6PC3):c.406C>T (p.Arg136Trp) rs138557340
NM_138387.3(G6PC3):c.407G>A (p.Arg136Gln) rs200050824
NM_138387.3(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.3(G6PC3):c.479C>T (p.Ser160Leu)
NM_138387.3(G6PC3):c.50A>C (p.Asn17Thr)
NM_138387.3(G6PC3):c.566G>A (p.Arg189Gln) rs140294222
NM_138387.3(G6PC3):c.574A>G (p.Met192Val)
NM_138387.3(G6PC3):c.580C>T (p.Arg194Trp)
NM_138387.3(G6PC3):c.674C>G (p.Ser225Cys)
NM_138387.3(G6PC3):c.709C>T (p.Arg237Trp)
NM_138387.3(G6PC3):c.727G>A (p.Val243Met) rs140785361
NM_138387.3(G6PC3):c.800C>G (p.Ser267Cys)
NM_138387.3(G6PC3):c.821G>A (p.Arg274His)
NM_138387.3(G6PC3):c.883G>T (p.Gly295Cys)
NM_138387.3(G6PC3):c.938A>G (p.Asn313Ser)
NM_138387.3(G6PC3):c.982G>A (p.Val328Met)

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