List of variants in gene combination BIVM-ERCC5, ERCC5 reported as uncertain significance for Cerebrooculofacioskeletal syndrome 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	rs4150319	0.00158
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)	rs4150318	0.00111
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	rs34291397	0.00059
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)	rs201911663	0.00022
NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser)	rs778333931	0.00020
NM_000123.4(ERCC5):c.1195G>A (p.Glu399Lys)	rs4150315	0.00017
NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)	rs587778292	0.00011
NM_000123.4(ERCC5):c.529-3C>T	rs372122917	0.00005
NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu)	rs560626350	0.00003
NM_000123.4(ERCC5):c.844G>A (p.Val282Ile)	rs747651424	0.00003
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg)	rs770177920	0.00002
NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr)	rs2140527689
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu)	rs573839835
NM_000123.4(ERCC5):c.2788C>G (p.Pro930Ala)
NM_000123.4(ERCC5):c.511C>A (p.Gln171Lys)	rs762256976

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