ClinVar Miner

List of variants reported as likely pathogenic for DNA repair disease by Claritas Genomics

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) rs786205173
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423

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