List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)	rs139804668	0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)	rs372632599	0.00002
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)	rs1335417539	0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)	rs760838030	0.00001
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)	rs753679297
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	rs768409471
NM_024570.4(RNASEH2B):c.136+1del	rs75186889
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)	rs74555752
NM_033629.6(TREX1):c.144dup (p.Thr49fs)	rs748914604
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)	rs1331920811
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303

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