ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as uncertain significance for Moyamoya syndrome

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_033629.5(TREX1):c.-127G>C rs577465983
NM_033629.5(TREX1):c.-199A>G rs767364235
NM_033629.5(TREX1):c.-206G>T rs886058622
NM_033629.5(TREX1):c.-287C>T rs377157141
NM_033629.6(TREX1):c.-100C>T rs886058623
NM_033629.6(TREX1):c.-26-1G>A rs749323787
NM_033629.6(TREX1):c.-50_-47CTGC[4] rs371036312
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.312G>C (p.Leu104=) rs56162833
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)
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.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.923C>G (p.Ser308Cys) rs769885715
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506

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