ClinVar Miner

List of variants in gene ERCC2 studied for Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn) rs143710107 0.00034
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00027
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00025
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.1887G>C (p.Gln629His) rs200665173 0.00008
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00008
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00008
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
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.1585G>A (p.Ala529Thr) rs370819591 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 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.442C>T (p.His148Tyr) rs201382232 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.1801C>T (p.Arg601Trp) rs753641926 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000400.4(ERCC2):c.2125A>C (p.Thr709Pro) rs758758729 0.00003
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 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.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.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1292C>G (p.Pro431Arg) rs1266742977 0.00001
NM_000400.4(ERCC2):c.1308-2A>G rs766369300 0.00001
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln) rs772572683 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.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.2282G>C (p.Ter761Ser) rs966558219 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.361-1G>A rs773645934 0.00001
NM_000400.4(ERCC2):c.556C>T (p.Arg186Cys) rs143960980 0.00001
NM_000400.4(ERCC2):c.852del (p.Glu284fs) rs1185007661 0.00001
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) rs2123286013
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter) rs1412068236
NM_000400.4(ERCC2):c.1017_1018insTC (p.Val340fs)
NM_000400.4(ERCC2):c.1084_1087dup (p.Gln363fs)
NM_000400.4(ERCC2):c.1248C>G (p.Ile416Met) rs1972060367
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.1377_1378insTT (p.Thr460fs)
NM_000400.4(ERCC2):c.1480-2A>C rs1971989621
NM_000400.4(ERCC2):c.1483A>G (p.Ile495Val)
NM_000400.4(ERCC2):c.1543+2T>A
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1712C>A (p.Thr571Asn) rs2514002720
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu) rs140522180
NM_000400.4(ERCC2):c.184-1_186del
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1847_1850del (p.Arg616fs) rs2514000268
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs) rs1971857332
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter) rs2514045040
NM_000400.4(ERCC2):c.1984_1985del (p.Gln662fs) rs769795873
NM_000400.4(ERCC2):c.1987T>C (p.Cys663Arg)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2047-13_2048del rs1327017125
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs) rs1172840777
NM_000400.4(ERCC2):c.2190+1G>C
NM_000400.4(ERCC2):c.2252A>G (p.Lys751Arg)
NM_000400.4(ERCC2):c.419_423del (p.Ser140fs)
NM_000400.4(ERCC2):c.566G>A (p.Trp189Ter)
NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter) rs2514033921
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.688G>A (p.Val230Ile)
NM_000400.4(ERCC2):c.849dup (p.Glu284fs) rs2514030085
NM_000400.4(ERCC2):c.980A>G (p.Glu327Gly) rs779381865

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