ClinVar Miner

List of variants studied for Cockayne syndrome by Genetic Services Laboratory,University of Chicago

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562

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