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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_152564.5(VPS13B):c.4949+2T>C	rs761273297	0.00001
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_001111.5(ADAR):c.2763-2A>G	rs2101579172
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)	rs2101563488
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter)	rs2101642015
NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu)	rs2150810705
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	rs869025195
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs)	rs2122349615
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter)	rs2122268166
NM_032415.7(CARD11):c.88C>G (p.Arg30Gly)	rs145474800
NM_152564.5(VPS13B):c.6046+1G>C	rs750003804

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