ClinVar Miner

List of variants in gene ERCC2 studied for Cockayne syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026

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