C0268136[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16582	NM_000122.2(ERCC3):c.2218-6C>A	ERCC3	Single nucleotide variant (intron variant)	Xeroderma pigmentosum group B	GPathogenic
Select item 16588	NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter)	ERCC3 (Q545* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum group B	GPathogenic
Select item 134130	NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)	ERCC3 (D474fs +1 more)	Duplication (frameshift variant)	Trichothiodystrophy 2, photosensitive +3 more	GPathogenic/Likely pathogenic
Select item 16585	NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	ERCC3 (R425* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 16586	NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer)	ERCC3	Deletion (nonsense)	not provided	GPathogenic
Select item 16589	NM_000122.2(ERCC3):c.471+1G>A	ERCC3	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum	GPathogenic
Select item 16583	NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser)	ERCC3 (F99S +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B	GPathogenic

ClinVar