ClinVar Miner

Variants in gene ERCC2 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1877 102 0 28 17 0 12 53

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 6 0 0
likely pathogenic 10 0 8 0 0
uncertain significance 6 8 0 14 4
likely benign 0 0 14 0 19
benign 0 0 4 19 0

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_000400.4(ERCC2):c.1238-1155C>G rs41275762 0.00529
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) rs141816180 0.00248
NM_000400.4(ERCC2):c.687C>T (p.Ala229=) rs34021577 0.00234
NM_000400.4(ERCC2):c.1832-6C>T rs1799789 0.00211
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607 0.00113
NM_000400.4(ERCC2):c.1266C>T (p.Asp422=) rs142702501 0.00102
NM_000400.4(ERCC2):c.1775G>A (p.Arg592His) rs147224585 0.00089
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00044
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=) rs147128863 0.00041
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) rs116544270 0.00027
NM_000400.4(ERCC2):c.1842C>T (p.Tyr614=) rs148319713 0.00025
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) rs368708674 0.00012
NM_000400.4(ERCC2):c.1119-3C>T rs41547016 0.00011
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 0.00011
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln) rs150000483 0.00008
NM_000400.4(ERCC2):c.5+6A>G rs751637822 0.00007
NM_000400.4(ERCC2):c.1237+20T>A rs758988777 0.00005
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258 0.00004
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp) rs562132292 0.00004
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr) rs370819591 0.00004
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00004
NM_000400.4(ERCC2):c.183+2T>A rs201127596 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000400.4(ERCC2):c.1665+17C>A rs774329591 0.00002
NM_000400.4(ERCC2):c.1666-2A>T rs199658345 0.00002
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser) rs764868582 0.00002
NM_000400.4(ERCC2):c.1195C>T (p.Leu399Phe) rs551211003 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1707del (p.Ile569fs) rs767672172
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln) rs759412116
NM_000400.4(ERCC2):c.2191-11G>A rs1568530396
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206

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