ClinVar Miner

List of variants in gene ERCC2 studied for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1758+32C>G rs238417 0.66337
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000400.4(ERCC2):c.247-35G>A rs1799783 0.64393
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.2133C>T (p.Asp711=) rs1052555 0.25433
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00029
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00026
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 0.00013
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 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.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.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter) rs199643821 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
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.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00002
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
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.1553G>A (p.Arg518Gln) rs1039034665 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.1984C>T (p.Gln662Ter) rs778479250 0.00001
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp) rs752510317 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 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.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.1703_1704del (p.Phe568fs) rs587778271
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.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)
NM_000400.4(ERCC2):c.1808_1809del (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.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln) rs1971845337
NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2009del (p.Gly670fs) rs1971844830
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.2190+1del rs1476160722
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.361-1G>A
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.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)
NM_000400.4(ERCC2):c.676G>T (p.Ala226Ser) rs753696173
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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