List of variants reported as likely pathogenic for immune system disorder by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_032415.7(CARD11):c.3145-3C>T	rs200456391	0.00077
NM_032415.7(CARD11):c.2921G>A (p.Arg974His)	rs750407488	0.00011
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	rs930347206	0.00009
NM_006767.4(LZTR1):c.510-2A>G	rs1458682620	0.00001
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)	rs1555634422
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)	rs917070773
NM_000383.4(AIRE):c.268T>C (p.Tyr90His)	rs1555871902
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	rs1839765652
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)	rs730880382
NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs)	rs1584651110
NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter)	rs1597402936
NM_007248.3(TREX1):c.1033_1050del	rs1575295176
NM_172351.3(CD46):c.857-1G>A
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp)	rs1451816005

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