List of variants in gene ERCC3 reported as pathogenic for Trichothiodystrophy 2, photosensitive

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)	rs753182861	0.00013
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	rs121913047
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro)	rs121913046

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