List of variants reported as pathogenic for Aicardi Goutieres syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	rs138603088	0.00002
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)	rs121434517	0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)	rs267607027	0.00001
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	rs768409471
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)	rs2137952274
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303

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