List of variants in gene ERCC6 reported as likely benign by Illumina Laboratory Services, Illumina

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.*1327G>A	rs117289374	0.01454
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)	rs2229761	0.00814
NM_000124.4(ERCC6):c.*1981dup	rs557832376	0.00515
NM_000124.4(ERCC6):c.*2155T>C	rs114183603	0.00503
NM_000124.4(ERCC6):c.*2766T>G	rs141121035	0.00448
NM_000124.4(ERCC6):c.*3921A>G	rs533984667	0.00364
NM_000124.4(ERCC6):c.*3280A>G	rs146690522	0.00291
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)	rs114896216	0.00234
NM_000124.4(ERCC6):c.*2729G>A	rs535616736	0.00214
NM_000124.4(ERCC6):c.*118A>C	rs4253233	0.00201
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg)	rs142094044	0.00191
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr)	rs148636026	0.00191
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	rs61760163	0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	rs139007661	0.00179
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)	rs61760167	0.00154
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)	rs55698015	0.00142
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)	rs41562713	0.00127
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=)	rs144608959	0.00118
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=)	rs148366188	0.00108
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys)	rs146043988	0.00083
NM_000124.4(ERCC6):c.*813C>T	rs181327678	0.00077
NM_000124.4(ERCC6):c.150G>A (p.Val50=)	rs80133923	0.00073
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp)	rs147079519	0.00063
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)	rs148095899	0.00061
NM_000124.4(ERCC6):c.1992+7C>T	rs373710355	0.00056
NM_000124.4(ERCC6):c.*4019A>G	rs569564278	0.00052
NM_000124.4(ERCC6):c.*1314G>A	rs542053472	0.00043
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=)	rs35365613	0.00041
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys)	rs61749175	0.00035
NM_000124.4(ERCC6):c.*2237C>T	rs192242583	0.00023
NM_000124.4(ERCC6):c.2925-8T>A	rs147637331	0.00017
NM_000124.4(ERCC6):c.*4208A>G	rs182395696	0.00014
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile)	rs116275562	0.00007
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)	rs149382642	0.00007
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met)	rs767709344	0.00001
NM_000124.4(ERCC6):c.*2337A>C	rs557944846
NM_000124.4(ERCC6):c.*4090G>A	rs117555054
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	rs4253208

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