List of variants in gene ERCC2 reported as not provided for not specified

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_000400.4(ERCC2):c.1119-102G>T	rs171140	0.64380
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)	rs13181	0.31719
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)	rs1799793	0.26310
NM_000400.4(ERCC2):c.1119-116C>G	rs73559309	0.02048
NM_000400.4(ERCC2):c.1119-146T>G	rs111562095	0.02027
NM_000400.4(ERCC2):c.1119-80C>T	rs3895625	0.01074
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	rs147972150	0.00125
NM_000400.4(ERCC2):c.1119-194C>T	rs139596759	0.00096
NM_000400.4(ERCC2):c.1775G>A (p.Arg592His)	rs147224585	0.00089
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)	rs34517175	0.00068
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	rs121913016	0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00029
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)	rs142936491	0.00029
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys)	rs137910235	0.00026
NM_000400.4(ERCC2):c.1119-5G>A	rs369538318	0.00021
NM_000400.4(ERCC2):c.1119-89G>A	rs577987254	0.00017
NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys)	rs201392911	0.00014
NM_000400.4(ERCC2):c.1119-19C>T	rs3916824	0.00007
NM_000400.4(ERCC2):c.1119-173T>A	rs183340713	0.00006
NM_000400.4(ERCC2):c.2069G>A (p.Arg690Gln)	rs537616689	0.00006
NM_000400.4(ERCC2):c.2128G>A (p.Val710Met)	rs141808167	0.00005
NM_000400.4(ERCC2):c.514G>A (p.Ala172Thr)	rs559154781	0.00004
NM_000400.4(ERCC2):c.974C>T (p.Thr325Met)	rs530045760	0.00004
NM_000400.4(ERCC2):c.1628A>C (p.Gln543Pro)	rs587778270	0.00002
NM_000400.4(ERCC2):c.294G>C (p.Glu98Asp)	rs145947678	0.00002
NM_000400.4(ERCC2):c.1195C>T (p.Leu399Phe)	rs551211003	0.00001
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys)	rs199738290	0.00001
NM_000400.4(ERCC2):c.164T>C (p.Leu55Pro)	rs587778274	0.00001
NM_000400.4(ERCC2):c.2231T>C (p.Leu744Pro)	rs201370106	0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)	rs571718677	0.00001
NM_000400.4(ERCC2):c.1119-25dup	rs56170134
NM_000400.4(ERCC2):c.1119-57dup	rs587777942
NM_000400.4(ERCC2):c.1276C>G (p.Pro426Ala)	rs577723968
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln)	rs140522180
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	rs200665173
NM_000400.4(ERCC2):c.2263C>T (p.Gln755Ter)	rs587778272
NM_000400.4(ERCC2):c.81_82delinsTT (p.Glu27_Leu28delinsAspPhe)	rs587778273

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