ClinVar Miner

List of variants in gene ERCC2 reported as not provided for Xeroderma pigmentosum, group D

Minimum submission review status:		Collection method:
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_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	rs41556519	0.00003
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	rs758439420	0.00001

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