List of variants reported as pathogenic for immune system disorder by Duke University Health System Sequencing Clinic, Duke University Health System

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	rs104894419	0.00007
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser)	rs1594982548
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs)	rs759838407

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