ClinVar Miner

List of variants in gene ERCC2 reported as uncertain significance for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000400.4(ERCC2):c.1119-85G>A rs148028467 0.00129
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00036
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.2195A>G (p.Asp732Gly) rs201828535 0.00011
NM_000400.4(ERCC2):c.1238-1192G>A rs180850149 0.00009
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00007
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) rs759116129 0.00006
NM_000400.4(ERCC2):c.491A>G (p.His164Arg) rs769656890 0.00006
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr) rs370819591 0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) rs201382232 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) rs139884931 0.00004
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.1339G>A (p.Val447Ile) rs141457460 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg) rs1309347920 0.00001
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile) rs763885481 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_000400.4(ERCC2):c.1118+4C>T rs762719901
NM_000400.4(ERCC2):c.1248C>G (p.Ile416Met)
NM_000400.4(ERCC2):c.1292C>G (p.Pro431Arg)
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) rs1972045362
NM_000400.4(ERCC2):c.1483A>G (p.Ile495Val)
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.2252A>G (p.Lys751Arg)
NM_000400.4(ERCC2):c.2282G>C (p.Ter761Ser) rs966558219
NM_000400.4(ERCC2):c.688G>A (p.Val230Ile)
NM_000400.4(ERCC2):c.980A>G (p.Glu327Gly)

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