ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome 1 by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) rs74556809
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009
NM_033629.6(TREX1):c.581del (p.Ser194fs)
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272

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