ClinVar Miner

List of variants in gene ERCC2 reported as likely pathogenic for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter) rs151235136 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000400.4(ERCC2):c.1666-2A>T rs199658345 0.00002
NM_000400.4(ERCC2):c.1758+1G>A rs760834687 0.00002
NM_000400.4(ERCC2):c.1308-2A>G rs766369300 0.00001
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys) rs199738290 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 0.00001
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His) rs762141272 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) rs760820378 0.00001
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) rs2123286013
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
NM_000400.4(ERCC2):c.1024del (p.Trp342fs)
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)
NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)
NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)
NM_000400.4(ERCC2):c.1307+1G>A
NM_000400.4(ERCC2):c.1347_1377+7del
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.136dup (p.Thr46fs)
NM_000400.4(ERCC2):c.1377+1dup
NM_000400.4(ERCC2):c.1479+2T>C
NM_000400.4(ERCC2):c.1480-1G>C
NM_000400.4(ERCC2):c.1543+2_1543+33inv
NM_000400.4(ERCC2):c.1544-1G>T
NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter) rs2123229548
NM_000400.4(ERCC2):c.1732_1741del (p.Ser578fs)
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)
NM_000400.4(ERCC2):c.1759-2A>C
NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)
NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)
NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)
NM_000400.4(ERCC2):c.1832-1G>T
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
NM_000400.4(ERCC2):c.1865del (p.Gly622fs)
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)
NM_000400.4(ERCC2):c.2046+1G>T rs774768228
NM_000400.4(ERCC2):c.2047-13_2048del rs1327017125
NM_000400.4(ERCC2):c.2047-2A>C
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)
NM_000400.4(ERCC2):c.2190+1G>T
NM_000400.4(ERCC2):c.2191-2A>G
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)
NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)
NM_000400.4(ERCC2):c.478-2A>G
NM_000400.4(ERCC2):c.5+2T>A rs1599753508
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)
NM_000400.4(ERCC2):c.815+1G>A
NM_000400.4(ERCC2):c.956dup (p.Pro320fs)

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