List of variants in gene ERCC3 reported as likely pathogenic for Xeroderma pigmentosum group B

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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: 8

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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.1933C>T (p.Arg645Ter)	rs1404157087	0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)	rs763315862	0.00001
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)	rs770925947
NM_000122.2(ERCC3):c.2065-1G>C
NM_000122.2(ERCC3):c.240dup (p.Asp81fs)
NM_000122.2(ERCC3):c.710del (p.Asp237fs)

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