List of variants reported as pathogenic for immune system disorder by Provincial Medical Genetics Program of British Columbia, University of British Columbia

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	rs397517149

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