ClinVar Miner

List of variants in gene SETX reported as pathogenic for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) rs398124286
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380
NM_015046.7(SETX):c.6213_6214AG[1] (p.Glu2072fs) rs1564492117
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665

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