ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 1 by Baylor Genetics

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Total variants: 6
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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.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_033629.6(TREX1):c.-26-52C>T rs2040311705
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) rs2040342178

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