ClinVar Miner

List of variants in gene ERCC1 studied for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)

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