ClinVar Miner

List of variants in gene combination ERCC6, ERCC6-PGBD3 reported as uncertain significance for Cockayne syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000124.3(ERCC6):c.-100A>G rs886047041
NM_000124.3(ERCC6):c.-107A>G rs886047042
NM_000124.3(ERCC6):c.-14-2A>G rs760663515
NM_000124.3(ERCC6):c.-15+11G>A rs766986601
NM_000124.3(ERCC6):c.-52G>A rs550772412
NM_000124.3(ERCC6):c.-83G>A rs886047040
NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1134_1142dup (p.Glu384_Asp385insGluGluGlu) rs1554793268
NM_000124.3(ERCC6):c.127_129del (p.Glu43del) rs751610688
NM_000124.3(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.3(ERCC6):c.384C>T (p.Asp128=) rs146165518
NM_000124.3(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.3(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.3(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780

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