ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser)
NM_033629.6(TREX1):c.142_144del (p.Pro48del)
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu)
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys)
NM_033629.6(TREX1):c.191T>C (p.Val64Ala)
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg)
NM_033629.6(TREX1):c.212T>C (p.Val71Ala)
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu)
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys)
NM_033629.6(TREX1):c.24G>A (p.Pro8=)
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) rs748535974
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu)
NM_033629.6(TREX1):c.284A>G (p.His95Arg)
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg)
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile)
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) rs1064796645
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu)
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437
NM_033629.6(TREX1):c.427C>G (p.Leu143Val)
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly)
NM_033629.6(TREX1):c.473C>T (p.Ala158Val)
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln)
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu)
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr)
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn)
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly)
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg)
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr)
NM_033629.6(TREX1):c.757C>G (p.His253Asp)
NM_033629.6(TREX1):c.767del (p.Thr256fs)
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) rs867148059
NM_033629.6(TREX1):c.817C>G (p.Leu273Val)
NM_033629.6(TREX1):c.854A>T (p.Glu285Val)
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu)
NM_033629.6(TREX1):c.860_868del (p.Leu287_Ala289del)
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile)
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg)
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg)
NM_033629.6(TREX1):c.95C>T (p.Thr32Met)

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