List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome by Invitae

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Total variants: 13

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HGVS	dbSNP
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.11:g.(?_36911208)_(36919529_?)dup
NC_000020.11:g.(?_36927172)_(36927262_?)dup
NC_000020.11:g.(?_36930750)_(36930885_?)dup
NM_001111.5(ADAR):c.2886-1del
NM_001142279.2(RNASEH2B):c.179T>G (p.Leu60Arg)	rs75325951
NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup)	rs74556809
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)	rs1553696482
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)	rs923064561
NM_024570.4(RNASEH2B):c.510+1del	rs1593470515
NM_033629.6(TREX1):c.416del (p.Ala139fs)
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)	rs1553820518

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