List of variants reported as pathogenic for immune system disorder by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	rs730881294	0.00003
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_000051.4(ATM):c.7517_7520del	rs587781905
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)	rs151344629
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	rs397507509
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	rs397507514
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	rs397507523
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	rs137852814
NM_006767.4(LZTR1):c.1676T>A (p.Leu559Ter)
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs)	rs875989882

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