List of variants in gene ERCC2 reported as pathogenic for COFS syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00029
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	rs376556895	0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	rs121913026	0.00009
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)	rs121913020	0.00006
NM_000400.4(ERCC2):c.1867dup (p.Val623fs)	rs756630156	0.00005
NM_000400.4(ERCC2):c.183+2T>A	rs201127596	0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	rs121913024	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.1984C>T (p.Gln662Ter)	rs778479250	0.00001
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)	rs752510317	0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)	rs121913023	0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	rs758439420	0.00001
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln)	rs1971845337
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)	rs1971844960
NM_000400.4(ERCC2):c.2009del (p.Gly670fs)	rs1971844830
NM_000400.4(ERCC2):c.2190+1del	rs1476160722
NM_000400.4(ERCC2):c.361-1G>A
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)	rs767747355
NM_000400.4(ERCC2):c.594+2_594+5del	rs762309206

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