List of variants studied for Aicardi-Goutieres syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	rs397515480	0.00001
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)	rs373301983
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met)	rs772757667
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_033629.6(TREX1):c.58dup (p.Glu20fs)	rs78300695
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter)	rs184953805

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