List of variants in gene ERCC4 reported as benign for bone development disease

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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: 27

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HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A	rs254942	0.97995
NM_005236.3(ERCC4):c.1905-35T>C	rs1799799	0.36580
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)	rs1799801	0.24619
NM_005236.3(ERCC4):c.207+11G>A	rs762521	0.22979
NM_005236.3(ERCC4):c.1905-28G>A	rs1799800	0.22729
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)	rs2020955	0.06391
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)	rs1800067	0.05364
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)	rs2020958	0.01408
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)	rs1800124	0.01216
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)	rs16963255	0.01026
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)	rs3136056	0.00941
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)	rs2020953	0.00706
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)	rs2020957	0.00625
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	rs1799802	0.00471
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)	rs114077770	0.00403
NM_005236.3(ERCC4):c.2724C>T (p.Val908=)	rs3136225	0.00290
NM_005236.3(ERCC4):c.1812-5T>C	rs2020952	0.00215
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	rs1800069	0.00190
NM_005236.3(ERCC4):c.974-6T>C	rs201181735	0.00091
NM_005236.3(ERCC4):c.973+11A>T	rs185779788	0.00013
NM_005236.3(ERCC4):c.793-13A>T	rs201159142	0.00011
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	rs374186605	0.00008
NM_005236.3(ERCC4):c.389-5C>T	rs377224276	0.00006
NC_000016.10:g.13919809A>C	rs6498486
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)	rs55761944
NM_005236.3(ERCC4):c.974-7_974-6inv

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