ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.-60C>T rs2279076 0.00673
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466 0.00034
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833 0.00010
NM_033629.6(TREX1):c.651G>A (p.Arg217=) rs140199177 0.00007
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331 0.00006
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) rs762011967 0.00004
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.-100C>T rs886058623 0.00002
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00002
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437 0.00001
NM_033629.6(TREX1):c.846A>G (p.Leu282=) rs374232562 0.00001
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506 0.00001
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) rs2040380664

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