List of variants studied for autoinflammatory syndrome of childhood by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	rs77563738	0.00041
NM_198282.4(STING1):c.575G>T (p.Gly192Val)	rs201096097	0.00019
NM_001282225.2(ADA2):c.973-2A>G	rs139750129	0.00018
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	rs202134424	0.00010
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)	rs768503878	0.00002
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys)	rs552778606	0.00001
NM_004371.4(COPA):c.2993C>T (p.Ala998Val)	rs761919408	0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	rs755919767	0.00001
NM_198282.4(STING1):c.233G>A (p.Arg78Gln)	rs11554775	0.00001
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)	rs200930463
NM_004371.4(COPA):c.1874T>C (p.Ile625Thr)	rs2101829131
NM_006929.5(SKIC2):c.2977dup (p.Met993fs)	rs1582187890
NM_198282.4(STING1):c.760-2_766delinsTACCT	rs2152093375

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