List of variants studied for Aicardi-Goutieres syndrome by New York Genome Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)	rs759430873	0.00006
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn)	rs200802557	0.00004
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu)	rs367921237	0.00002
NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala)	rs200084726	0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)	rs761596589	0.00001
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp)	rs1246892209	0.00001
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	rs549586181
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)	rs778647626
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs)	rs2105238244
NM_033629.6(TREX1):c.23dup (p.Pro10fs)	rs781731683

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