List of variants reported as likely pathogenic for immune system disorder by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	rs121917830
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)	rs751713049
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)	rs1655079234
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)	rs121918467
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)	rs758626942
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)	rs2052291685
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)	rs2052320698
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)	rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)	rs2043042281
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)	rs1909527513

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