ClinVar Miner

Variants in gene ERCC6 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2709+1G>T rs1850818899
NM_000124.4(ERCC6):c.544-1G>A rs901360414

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