List of variants in gene BIVM-ERCC5, ERCC5, LOC126861834 studied for Cerebrooculofacioskeletal syndrome 3

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2437A>G (p.Ile813Val)	rs768296301	0.00001
NM_000123.4(ERCC5):c.2189A>G (p.Asp730Gly)	rs766211518
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)	rs777455688
NM_000123.4(ERCC5):c.2487_2489del (p.Asn829del)	rs1882858341

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