List of variants reported as pathogenic for immune system disorder by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	rs752941297	0.00004
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)	rs758081262	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_024675.4(PALB2):c.395del (p.Val132fs)	rs180177085	0.00001
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)	rs2135421164
NM_000051.4(ATM):c.8610_8613dup (p.His2872Ter)
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	rs80359525
NM_001042492.3(NF1):c.288+1G>A	rs1567816131
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	rs121918470
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)	rs137852813
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)	rs1572018284
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)	rs727503764
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	rs1553770510
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp)	rs869312890
NM_152564.5(VPS13B):c.3666+2T>C	rs386834082

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