ClinVar Miner

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)
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Total variants: 2

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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.2455C>T (p.Arg819Trp)	rs770975661	0.00002

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