ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_033629.6(TREX1):c.-60C>T rs2279076
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_130384.3(ATRIP):c.*267T>C rs148393533
NM_130384.3(ATRIP):c.*272del rs3135939
NM_130384.3(ATRIP):c.*665C>T rs548710061

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