List of variants reported as uncertain significance for T-B+ severe combined immunodeficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002838.5(PTPRC):c.982A>G (p.Ile328Val)	rs41314039	0.00063
NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro)	rs141919625	0.00036
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)	rs114970039	0.00025
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln)	rs148001159	0.00022
NM_007074.4(CORO1A):c.347T>C (p.Leu116Pro)	rs566260573	0.00019
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys)	rs200077579	0.00016
NM_000215.4(JAK3):c.362G>A (p.Arg121His)	rs143586866	0.00009
NM_000215.4(JAK3):c.2350+6C>T	rs200193137	0.00008
NM_002185.5(IL7R):c.508C>T (p.Arg170Cys)	rs145210284	0.00006
NM_007074.4(CORO1A):c.520G>A (p.Val174Met)	rs769707848	0.00005
NM_007074.4(CORO1A):c.595C>T (p.Arg199Cys)	rs763170903	0.00004
NM_002838.5(PTPRC):c.248C>T (p.Thr83Ile)	rs375051221	0.00003
NM_198053.3(CD247):c.58+8C>T	rs201494226	0.00003

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