List of variants reported as 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	rs397507530
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)	rs797045167
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]

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