List of variants in gene combination BIVM-ERCC5, ERCC5, LOC126861834 reported as uncertain significance for Xeroderma pigmentosum, group G; 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)	rs142438319	0.00071
NM_000123.4(ERCC5):c.2039A>G (p.Gln680Arg)	rs4987168	0.00003
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)	rs770975661	0.00002
NM_000123.4(ERCC5):c.2394C>G (p.Asp798Glu)

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