ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) rs74556809
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030
NM_033629.6(TREX1):c.416del (p.Ala139fs)
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518

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