ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026

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