ClinVar Miner

Variants in gene combination BIVM-ERCC5, ERCC5 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser) rs41281674 0.00373
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_000123.4(ERCC5):c.2534-10T>G rs199562917 0.00077
NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys) rs201274165 0.00027
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser) rs141763734 0.00016
NM_000123.4(ERCC5):c.48G>A (p.Gln16=) rs202038276 0.00007
NM_000123.4(ERCC5):c.2898C>T (p.Phe966=) rs535585040 0.00003
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896

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