List of variants in gene ERCC2 reported as pathogenic for Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00027
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	rs376556895	0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	rs121913026	0.00008
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	rs121913024	0.00004
NM_000400.4(ERCC2):c.1867dup (p.Val623fs)	rs756630156	0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)	rs370454709	0.00004
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	rs41556519	0.00003
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)	rs199643821	0.00002
NM_000400.4(ERCC2):c.1479+2dup	rs776705174	0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs)	rs1233791234	0.00002
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg)	rs1360631927	0.00001
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)	rs772572683	0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	rs758439420	0.00001
NM_000400.4(ERCC2):c.361-1G>A	rs773645934	0.00001
NM_000400.4(ERCC2):c.1017_1018insTC (p.Val340fs)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271

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