List of variants reported as uncertain significance for Aicardi-Goutieres syndrome by Baylor Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly)	rs773830258	0.00006
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)	rs367899281	0.00005
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys)	rs769486587	0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	rs766785968	0.00002
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu)	rs888356659	0.00001
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser)	rs1697011861
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu)	rs1697917766
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys)	rs770005027
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr)	rs1314541924
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val)	rs1682712829
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter)	rs1559809132
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val)	rs1857359607
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val)	rs1427683229
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys)	rs749473518
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser)	rs2040342178
NM_130384.3(ATRIP):c.*1024C>T	rs2040311705
NR_023317.1(RNU7-1):n.23T>G

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