List of variants reported as likely pathogenic for immune system disorder by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp)	rs758288006	0.00003
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)	rs768503878	0.00002
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	rs755919767	0.00001
NM_000064.4(C3):c.75-1G>A
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs)	rs2145875208
NM_006060.6(IKZF1):c.548G>A (p.Arg183His)	rs1812172495
NM_006929.5(SKIC2):c.2977dup (p.Met993fs)	rs1582187890
NM_007315.4(STAT1):c.511G>C (p.Asp171His)
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn)	rs587777650
NM_172351.3(CD46):c.944-1G>C

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