ClinVar Miner

List of variants in gene ERCC3 reported as pathogenic for not provided

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) rs150954655 0.00015
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) rs768687646 0.00004
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs) rs774261851 0.00002
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) rs1055129064 0.00001
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) rs1302552127 0.00001
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048 0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) rs763315862 0.00001
NM_000122.2(ERCC3):c.659_660insA (p.Ser221fs) rs1391179566 0.00001
NC_000002.11:g.(?_128046216)_(128051657_?)del
NM_000122.2(ERCC3):c.1023del (p.Cys342fs)
NM_000122.2(ERCC3):c.1129C>T (p.Gln377Ter)
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.1337dup (p.Pro447fs)
NM_000122.2(ERCC3):c.133C>T (p.Gln45Ter)
NM_000122.2(ERCC3):c.1385_1386del (p.His461_Cys462insTer) rs2104762167
NM_000122.2(ERCC3):c.146C>G (p.Ser49Ter)
NM_000122.2(ERCC3):c.1685_1686del (p.Ala562fs)
NM_000122.2(ERCC3):c.1735del (p.Tyr579fs)
NM_000122.2(ERCC3):c.174del (p.Lys59fs)
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000122.2(ERCC3):c.1771C>T (p.Gln591Ter)
NM_000122.2(ERCC3):c.1906del (p.Glu636fs)
NM_000122.2(ERCC3):c.229del (p.Trp77fs)
NM_000122.2(ERCC3):c.338dup (p.His114fs)
NM_000122.2(ERCC3):c.363C>G (p.Tyr121Ter)
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000122.2(ERCC3):c.568C>T (p.Gln190Ter)
NM_000122.2(ERCC3):c.576_583del (p.Val193fs)
NM_000122.2(ERCC3):c.579_580insT (p.Ile194fs)
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.2(ERCC3):c.649_652del (p.Lys217fs)
NM_000122.2(ERCC3):c.731del (p.Ile244fs)
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000122.2(ERCC3):c.832G>T (p.Glu278Ter)
NM_000122.2(ERCC3):c.862del (p.Glu288fs) rs2104774793
NM_000122.2(ERCC3):c.971del (p.Leu324fs)
NM_000122.2(ERCC3):c.973C>T (p.Arg325Ter)

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