ClinVar Miner

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

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2879+14C>T	rs4150360	0.42594
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His)	rs17655	0.30419

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