ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00004
NM_033629.6(TREX1):c.-27+4A>G
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) rs184953805
NM_033629.6(TREX1):c.635C>T (p.Pro212Leu)

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