List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)	rs774964432	0.00004
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	rs77103971	0.00003
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)	rs75718910	0.00002
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	rs397515480	0.00001
NM_024570.4(RNASEH2B):c.698+1G>A	rs367915667	0.00001
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	rs969498121
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)	rs76436818
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)	rs149846637
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)	rs75325951
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)	rs1354160835

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