ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as benign for Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_130384.3(ATRIP):c.*714T>C rs3135941 0.13734
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_130384.3(ATRIP):c.*2083T>C rs3135946 0.03909
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.183G>A (p.Pro61=) rs55852466 0.00034
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506 0.00001

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