ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as benign for Aicardi-Goutieres syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_033629.6(TREX1):c.*37T>C rs3135946
NM_033629.6(TREX1):c.-68T>C rs3135941
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945

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