List of variants studied for immune system disorder by Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)	rs774964432	0.00004
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)	rs199931785	0.00004
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	rs267606706	0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)	rs369035155	0.00001
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)	rs1936727304
NM_024570.4(RNASEH2B):c.322-17A>G
NM_182916.3(TRNT1):c.1057-7C>G	rs368078167
t(3;9)(q13.31;p24.1)

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