ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome 1 by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797 0.62991
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
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.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_033629.6(TREX1):c.120C>T (p.His40=) rs758622317 0.00011
NM_033629.6(TREX1):c.843C>T (p.Ala281=) rs200719301 0.00010
NM_033629.6(TREX1):c.504C>G (p.Pro168=) rs747052975 0.00009
NM_033629.6(TREX1):c.879G>C (p.Leu293=) rs368090024 0.00001
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)

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