ClinVar Miner

List of variants in gene ERCC1 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs) rs1231361408
NM_001983.4(ERCC1):c.422del (p.Leu141fs) rs1568585641
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028

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