List of variants in gene ERCC3 reported as pathogenic for DNA repair disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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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.1757del (p.Gln586fs)	rs753182861	0.00012
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)	rs587778281	0.00006
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)	rs121913048	0.00001
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	rs121913047
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.2218-6C>A	rs200733704
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)	rs121913045
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro)	rs121913046
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)	rs1404293670
NM_000122.2(ERCC3):c.471+1G>A	rs1558964705
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)	rs138385061
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer)	rs866379139

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