List of variants reported as pathogenic for immune system disorder by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	rs762902309	0.00004
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	rs730881294	0.00003
NC_000022.10:g.(?_21336586)_(21353321_?)del
NM_000051.4(ATM):c.2502dup (p.Val835fs)	rs587779822
NM_000135.2:c.1471-490_3627-655del
NM_000135.2:c.522+715_2852+656del
NM_000135.4(FANCA):c.1294del (p.Leu432fs)	rs1211579979
NM_000135.4(FANCA):c.1626+967_2015-679del
NM_000135.4(FANCA):c.2014+479_2504+1244del
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	rs587779904
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	rs267608150
NM_002351.5(SH2D1A):c.201+1dup
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)	rs397509400
NM_024675.4(PALB2):c.1675_1676delinsTG
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg)	rs2107668680
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	rs1553770510

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