List of variants reported as likely pathogenic for immune system disorder by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00088
NM_001085487.3(MYSM1):c.219-1G>A	rs201886018	0.00016
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	rs559088058	0.00006
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)	rs758829443	0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	rs179363889	0.00002
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)	rs933746831	0.00001
NM_001083116.3(PRF1):c.963del (p.Glu323fs)	rs2132476029
NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs)
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)	rs397507536
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	rs397507527
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys)	rs2141509652
NM_005045.4(RELN):c.7120G>T (p.Glu2374Ter)
NM_006929.5(SKIC2):c.2203-1G>A
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_032444.4(SLX4):c.838G>T (p.Gly280Ter)
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)	rs2145836461

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