List of variants reported as pathogenic for immune system disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter)	rs121908002	0.00035
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)	rs189650890	0.00003
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter)	rs934897228	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)	rs180177135	0.00002
NM_000051.4(ATM):c.4373del (p.Gly1458fs)	rs587781653
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	rs121918469
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	rs397507505
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	rs397507517
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	rs869312687
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	rs1591495767

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