ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as pathogenic for chilblain lupus 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs)
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)
NM_033629.6(TREX1):c.23dup (p.Pro10fs)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter)
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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