List of variants reported as pathogenic for immune system disorder by Genomics England Pilot Project, Genomics England

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_001905.4(CTPS1):c.1692-1G>C	rs145092287	0.00015
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)	rs369098773	0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)	rs1231469574	0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_000355.4(TCN2):c.172del (p.Leu58fs)	rs2145536721
NM_001111.5(ADAR):c.3202+1G>A	rs2101565765
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)	rs397516813

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