List of variants studied for autoinflammatory syndrome of childhood by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)	rs41548013	0.00404
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)	rs200945986	0.00011
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	rs202134424	0.00010
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	rs755919767	0.00001
NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp)	rs1555973963
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe)	rs1457758264
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu)	rs758719669
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)	rs774888783
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)	rs774076578
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)	rs74162087
NM_022168.4(IFIH1):c.716dup (p.Met240fs)	rs1558875029
NM_033629.6(TREX1):c.243_246del (p.Ser82fs)	rs2040335386

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