ClinVar Miner

List of variants studied for Severe congenital neutropenia 5, autosomal recessive by Invitae

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Total variants: 24
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HGVS dbSNP
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln)
NM_007259.5(VPS45):c.1371+5A>G
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn) rs1553802469
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys) rs151292369
NM_007259.5(VPS45):c.1494-7A>G rs1435795274
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly)
NM_007259.5(VPS45):c.1626-4T>G
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly)
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) rs139341274
NM_007259.5(VPS45):c.319G>A (p.Val107Met)
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg) rs191692092
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538
NM_007259.5(VPS45):c.571G>A (p.Val191Ile)
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)
NM_007259.5(VPS45):c.614G>A (p.Arg205His) rs146660821
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) rs587716374
NM_007259.5(VPS45):c.785T>C (p.Val262Ala)

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