List of variants reported as pathogenic for immune system disorder by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
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_000546.6(TP53):c.1077del (p.Ser362fs)	rs1555524370
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	rs397507505
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu)	rs2116431707
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs)	rs1813589674
NM_152564.5(VPS13B):c.8995-2A>G	rs1554569259

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