List of variants in gene ERCC6 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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838	0.00025
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	rs151242354	0.00009
NM_000124.4(ERCC6):c.2599-26A>G	rs4253196	0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	rs376526037	0.00003
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	rs121917904	0.00003
NM_000124.4(ERCC6):c.2287-2A>G	rs754978734	0.00002
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)	rs765825423	0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	rs751838040	0.00002
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)	rs751448793	0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)	rs786205171	0.00001
NM_000124.4(ERCC6):c.1004del (p.Leu335fs)	rs1554793305
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)	rs1198241866
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)	rs2132552521
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	rs1439211546
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)	rs2495996016
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)	rs1590413260
NM_000124.4(ERCC6):c.22del (p.His8fs)	rs2496175399
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)	rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)	rs1554787509
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)	rs121917905
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)	rs786205172
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs)	rs758341467
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)	rs786205174
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)	rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)	rs875989810
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]

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