List of variants in gene combination BIVM-ERCC5, ERCC5 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.945C>T (p.His315=)	rs34061299	0.00370
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	rs9518857	0.00270
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)	rs4150388	0.00250
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	rs4150319	0.00158
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	rs146344855	0.00113
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)	rs4150318	0.00111
NM_000123.4(ERCC5):c.1287T>C (p.Asp429=)	rs146853061	0.00109
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	rs150791877	0.00094
NM_000123.4(ERCC5):c.1536C>T (p.Asp512=)	rs145853933	0.00045
NM_000123.4(ERCC5):c.1641C>T (p.Asn547=)	rs200615101	0.00029
NM_000123.4(ERCC5):c.510T>C (p.Asn170=)	rs142884592	0.00019
NM_000123.4(ERCC5):c.1911C>T (p.Ala637=)	rs569227686	0.00008
NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=)	rs761650522	0.00008
NM_000123.4(ERCC5):c.48G>A (p.Gln16=)	rs202038276	0.00007
NM_000123.4(ERCC5):c.1587T>C (p.Cys529=)	rs189067487	0.00005
NM_000123.4(ERCC5):c.1131T>A (p.Ala377=)	rs764744058	0.00001
NM_000123.4(ERCC5):c.1572G>A (p.Pro524=)	rs776326992	0.00001
NM_000123.4(ERCC5):c.1593T>C (p.Asn531=)	rs762970178	0.00001
NM_000123.4(ERCC5):c.588G>A (p.Leu196=)	rs1882499491	0.00001
NM_000123.4(ERCC5):c.1119C>T (p.Asn373=)
NM_000123.4(ERCC5):c.1374A>G (p.Val458=)
NM_000123.4(ERCC5):c.1694A>G (p.Asp565Gly)
NM_000123.4(ERCC5):c.2652T>C (p.His884=)
NM_000123.4(ERCC5):c.3159A>G (p.Gly1053=)
NM_000123.4(ERCC5):c.327T>C (p.Leu109=)
NM_000123.4(ERCC5):c.3396A>G (p.Ser1132=)
NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=)	rs148782406
NM_000123.4(ERCC5):c.3549A>G (p.Lys1183=)
NM_000123.4(ERCC5):c.6G>A (p.Gly2=)
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)	rs61749896
NM_000123.4(ERCC5):c.881-30A>G

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