List of variants reported as pathogenic for immune system disorder by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001083116.3(PRF1):c.50del (p.Leu17fs)	rs147035858	0.00100
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	rs145360423	0.00054
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	rs104894176	0.00003
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)	rs753621591	0.00001
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_001083116.3(PRF1):c.851_862del (p.Lys284_Lys287del)	rs1564724291
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)	rs137854450
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)	rs1568107449
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)	rs768724007

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