List of variants in gene ERCC6 reported as likely pathogenic for DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2

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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: 38

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	rs771781694	0.00003
NM_000124.4(ERCC6):c.4063-1G>C	rs766980240	0.00002
NM_000124.4(ERCC6):c.422+1G>A	rs1198472093	0.00002
NM_000124.4(ERCC6):c.1398-2A>G	rs1317145066	0.00001
NM_000124.4(ERCC6):c.1821+1G>A	rs1228919836	0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)	rs774791374	0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)	rs786205171	0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)	rs765825423	0.00001
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter)	rs762976316	0.00001
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)	rs1198241866
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)	rs1554793270
NM_000124.4(ERCC6):c.1527-2A>G	rs768608345
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs)	rs1554789393
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)	rs767247987
NM_000124.4(ERCC6):c.207dup (p.Pro70fs)	rs1554794641
NM_000124.4(ERCC6):c.214del (p.Leu72fs)	rs1554794640
NM_000124.4(ERCC6):c.2169+1G>A	rs1441655600
NM_000124.4(ERCC6):c.2286+1G>A	rs1362935450
NM_000124.4(ERCC6):c.2383-1G>A	rs1554787554
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs)	rs1554794620
NM_000124.4(ERCC6):c.3071-1G>A	rs1554875287
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)	rs1850765501
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)	rs786205170
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs)	rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)	rs786205172
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs)	rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)	rs1554875154
NM_000124.4(ERCC6):c.3778+1G>C	rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)	rs1386369933
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)	rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G	rs1554873973
NM_000124.4(ERCC6):c.4062+2T>A	rs1554873950
NM_000124.4(ERCC6):c.422+1G>C	rs1198472093
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer)	rs1554794360
NM_000124.4(ERCC6):c.544-2A>G	rs1554794073
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.779_780dup (p.Arg261fs)	rs1254008304

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