List of variants reported as uncertain significance for autoinflammatory syndrome of childhood by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002796.3(PSMB4):c.-9G>A	rs200946642	0.00112
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)	rs146451037	0.00063
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)	rs370504038	0.00012
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr)	rs189403607	0.00006
NM_198282.4(STING1):c.757C>T (p.Arg253Trp)	rs199795457	0.00006
NM_014314.4(RIGI):c.2596C>T (p.Arg866Ter)	rs757554872	0.00004
NC_000003.12:g.163410987_163411003del
NM_001611.5(ACP5):c.359A>G (p.Gln120Arg)
NM_002801.4(PSMB10):c.56+1G>A
NM_004371.4(COPA):c.3196G>A (p.Val1066Met)
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met)	rs1018712289
NM_022168.4(IFIH1):c.1652A>G (p.Lys551Arg)
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter)	rs1252022173
NM_022168.4(IFIH1):c.88C>T (p.Pro30Ser)
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)

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