List of variants studied for autoinflammatory syndrome of childhood by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)	rs369359789	0.00022
NM_001282225.2(ADA2):c.973-2A>G	rs139750129	0.00018
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)	rs139471471	0.00010
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)	rs758719669	0.00009
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	rs781050795	0.00003
NM_001282225.2(ADA2):c.827T>C (p.Phe276Ser)	rs2123651469
NM_004371.4(COPA):c.721G>A (p.Glu241Lys)	rs794727995
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	rs549586181
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro)	rs1392840230
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)	rs777034646
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)	rs1416519719
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)	rs1202502842

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