List of variants in gene ERCC2 reported as likely pathogenic for Xeroderma pigmentosum

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)	rs370454709	0.00004
NM_000400.4(ERCC2):c.1479+2dup	rs776705174	0.00002
NM_000400.4(ERCC2):c.595-10G>A	rs761737358	0.00001
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)	rs750123656
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	rs376556895
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2190+1del	rs1476160722

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