ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.137dup (p.Ser46fs) rs2107255865
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.243_246del (p.Ser82fs) rs2040335386
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) rs768724007
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.581del (p.Ser194fs) rs1575293518
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) rs184953805
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) rs2040385695
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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