List of variants in gene ERCC3 reported as likely benign for DNA repair disease

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_000122.1(ERCC3):c.-69C>T	rs9282675	0.02606
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=)	rs2228544	0.01580
NM_000122.2(ERCC3):c.1485G>A (p.Glu495=)	rs4150456	0.01434
NM_000122.2(ERCC3):c.1027+3A>G	rs4150417	0.01342
NM_000122.2(ERCC3):c.-98A>G	rs4150398	0.00933
NM_000122.2(ERCC3):c.*106T>C	rs4150524	0.00895
NM_000122.2(ERCC3):c.1008G>A (p.Gly336=)	rs115924997	0.00248
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)	rs4150521	0.00227
NM_000122.2(ERCC3):c.-19C>T	rs184301749	0.00158
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	rs151216904	0.00085
NM_000122.2(ERCC3):c.2334G>A (p.Lys778=)	rs147499527	0.00050
NM_000122.2(ERCC3):c.1528-9G>A	rs368660980	0.00048
NM_000122.2(ERCC3):c.1730+16T>G	rs202086538	0.00036
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=)	rs376593226	0.00024
NM_000122.2(ERCC3):c.2218-5G>A	rs201054106	0.00016
NM_000122.2(ERCC3):c.29-15G>T	rs188356418	0.00016
NM_000122.2(ERCC3):c.1053G>C (p.Val351=)	rs373666495	0.00008
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=)	rs371396764	0.00008
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=)	rs114508982	0.00006
NM_000122.2(ERCC3):c.429C>T (p.Leu143=)	rs908044728	0.00006
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=)	rs752026166	0.00003
NM_000122.2(ERCC3):c.2218-6C>T	rs200733704	0.00003
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=)	rs769083884	0.00001
NM_000122.2(ERCC3):c.1497T>C (p.Asn499=)	rs1479882729	0.00001
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)	rs1258857605	0.00001
NM_000122.2(ERCC3):c.111G>T (p.Ala37=)	rs749971925
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=)	rs1684874632
NM_000122.2(ERCC3):c.1947G>A (p.Gly649=)	rs1218748702
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=)	rs114710997
NM_000122.2(ERCC3):c.2112G>T (p.Ser704=)	rs114710997
NM_000122.2(ERCC3):c.411C>G (p.Thr137=)	rs774188273
NM_000122.2(ERCC3):c.882A>G (p.Glu294=)	rs1486201257

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