List of variants reported as likely pathogenic for immune system disorder by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly)	rs1566903931
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	rs80338797
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)	rs761761205

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