ClinVar Miner

List of variants in gene ATRIP, ATRIP-TREX1, TREX1 studied for Aicardi-Goutieres syndrome 1

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP
NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) rs74556809
NM_033629.6(TREX1):c.-26-1G>A rs749323787
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.206_207TG[3] (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.206_207TG[5] (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418
NM_033629.6(TREX1):c.250A>G (p.Ile84Val)
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr)
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437
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.490C>T (p.Arg164Ter) rs78218009
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) rs768724007
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.581del (p.Ser194fs)
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup) rs78379807
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) rs184953805
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg)
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu)
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715

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