List of variants reported as pathogenic for immune system disorder by Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001905.4(CTPS1):c.1692-1G>C	rs145092287	0.00015
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00010
NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter)	rs1571880832
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)	rs28939089
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del)	rs1554861545
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)	rs387906632
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)	rs34019455
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs)	rs869312169
Single allele

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