ClinVar Miner

List of variants in gene ERCC4 reported as benign for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_005236.2(ERCC4):c.*2513C>A rs11075223
NM_005236.2(ERCC4):c.*2577C>A rs56012340
NM_005236.2(ERCC4):c.*2577delC rs61422086
NM_005236.2(ERCC4):c.*3032G>T rs4781562
NM_005236.2(ERCC4):c.*3195G>A rs4781563
NM_005236.2(ERCC4):c.*3953del rs397778750
NM_005236.2(ERCC4):c.*484G>T rs3743538
NM_005236.2(ERCC4):c.*726G>C rs2276464
NM_005236.2(ERCC4):c.*810G>A rs2276465
NM_005236.2(ERCC4):c.*971C>G rs2276466
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.207+11G>A rs762521
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.2505T>C (p.Ser835=) rs1799801
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.389-5C>T rs377224276
NM_005236.2(ERCC4):c.974-7G>A rs254942
NM_005236.2(ERCC4):c.974-7_974-6invGT

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