ClinVar Miner

List of variants reported as likely pathogenic for Aicardi Goutieres syndrome 1

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Total variants: 10
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NC_000003.12:g.48467718_48467735del rs1575295176
NM_033629.6(TREX1):c.143_144del (p.Pro48fs)
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.23dup (p.Pro10fs)
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691

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