List of variants in gene BIVM-ERCC5, ERCC5, LOC126861834 studied for Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)	rs142438319	0.00067
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val)	rs121434571	0.00003
NM_000123.4(ERCC5):c.2039A>G (p.Gln680Arg)	rs4987168	0.00001
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)	rs770975661	0.00001
NM_000123.4(ERCC5):c.2394C>G (p.Asp798Glu)
NM_000123.4(ERCC5):c.2431del (p.Ser811fs)
NM_000123.4(ERCC5):c.2533G>T (p.Gly845Ter)

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